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1. Full Text Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease
by Smemo, Scott and Campos, Luciene C and Moskowitz, Ivan P and Krieger, José E and Pereira, Alexandre C and Nobrega, Marcelo A
Human Molecular Genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Recent studies have identified the genetic underpinnings of a growing number of diseases through targeted exome sequencing. However, this strategy ignores the... 
TRANSCRIPTION FACTORS | COMMON VARIANTS | LIMB | CANCER RISK | DEFECTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MUTATIONS | HOLT-ORAM-SYNDROME | IDENTIFICATION | EXPRESSION | GENOME | Abnormalities, Multiple - metabolism | Heart Defects, Congenital - embryology | Heart - embryology | Humans | Molecular Sequence Data | Abnormalities, Multiple - embryology | Heart Defects, Congenital - genetics | Lower Extremity Deformities, Congenital - embryology | Base Sequence | Heart Septal Defects, Atrial - metabolism | Upper Extremity Deformities, Congenital - embryology | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Lower Extremity Deformities, Congenital - metabolism | Animals, Genetically Modified | Zebrafish | Upper Extremity Deformities, Congenital - metabolism | Heart Septal Defects, Atrial - embryology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Homozygote | Point Mutation | Animals | Enhancer Elements, Genetic | Heart Defects, Congenital - metabolism | Mice | Neonates | Animal models | Enhancers | Transcription factors | genomics | Genetic engineering | Mutation | Bioinformatics | Heart diseases | Holt-Oram syndrome
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2. Full Text KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5
by Darwich, Rami and Li, Wenjuan and Yamak, Abir and Komati, Hiba and Andelfinger, Gregor and Sun, Kun and Nemer, Mona
Human Molecular Genetics, ISSN 0964-6906, 03/2017, Volume 26, Issue 5, pp. 942 - 954
TBX5, a member of the T-box family of transcription factors, is a dosage sensitive regulator of heart development. Mutations in TBX5 are responsible for... 
MICRODELETION | REGULATOR | BIOCHEMISTRY & MOLECULAR BIOLOGY | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GATA4 | NETWORKS | MUTATIONS | DIFFERENTIATION | DISTINCT EXPRESSION | CARDIOGENESIS | MOLECULAR-BASIS | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Heart Atria - pathology | Transcriptional Activation - genetics | Humans | Protein Domains - genetics | Heart Defects, Congenital - genetics | Kruppel-Like Transcription Factors - metabolism | Cell Cycle Proteins - genetics | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Ventricles - pathology | Repressor Proteins - metabolism | Disease Models, Animal | Lower Extremity Deformities, Congenital - metabolism | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Heart Defects, Congenital - pathology | Repressor Proteins - genetics | Upper Extremity Deformities, Congenital - metabolism | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Heart Atria - metabolism | Animals | Protein Interaction Maps - genetics | Protein Binding | Heterozygote | Heart Defects, Congenital - metabolism | Heart Ventricles - metabolism | Mice | Mutation | Kruppel-Like Transcription Factors - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology
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3. Full Text Molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications
by Al-Qattan, Mohammad M and Abou Al-Shaar, Hussam
Gene, ISSN 0378-1119, 04/2015, Volume 560, Issue 2, pp. 129 - 136
This paper reviews the molecular basis of the clinical features of Holt–Oram syndrome resulting from missense and extended protein mutations of the gene as... 
Missense mutation | TBX5 | Pathogenesis | Holt–Oram syndrome | Holt-Oram syndrome | DOMAIN | DEFECTS | CONDUCTION SYSTEM | CLASSIFICATION | FAMILY | NUCLEAR-LOCALIZATION | HEART | AGENESIS | GENETICS & HEREDITY | EXPRESSION | Abnormalities, Multiple - pathology | Gene Duplication | Genetic Association Studies | Humans | Heart Defects, Congenital - pathology | Myocardium - pathology | Heart Conduction System - abnormalities | Upper Extremity Deformities, Congenital - pathology | Mutation, Missense | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Genes | Genetic aspects
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4. Full Text Congenital heart diseases and their association with the variant distribution features on susceptibility genes
by Su, W and Zhu, P and Wang, R and Wu, Q and Wang, M and Zhang, X and Mei, L and Tang, J and Kumar, M and Wang, X and Su, L and Dong, N
Clinical Genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 349 - 354
Congenital heart disease (CHD), one of the causes of childhood morbidity and mortality, is mainly triggered by a combination of environmental and genetic... 
congenital heart disease | mutation | GATA4 | NKX2‐5 | TBX5 | gene variant | NKX2-5 | DEFECTS | ongenital heart disease | MORPHOGENESIS | GENETICS | INFANTS | GENETICS & HEREDITY | MUTATIONS | HOLT-ORAM-SYNDROME | FACTOR NKX2-5 | TRANSCRIPTION FACTOR | Abnormalities, Multiple - pathology | Tetralogy of Fallot - pathology | Genetic Predisposition to Disease | Heart Defects, Congenital - classification | Heart Septal Defects, Ventricular - genetics | Genetic Association Studies | Heart Septal Defects, Ventricular - pathology | Humans | Heart Defects, Congenital - pathology | GATA4 Transcription Factor - genetics | Upper Extremity Deformities, Congenital - pathology | Tetralogy of Fallot - genetics | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Homeobox Protein Nkx-2.5 - genetics | Mutation | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Analysis | Mortality | Genes | Genetic research | Amino acids | Genetic aspects | Congenital heart disease | Heart diseases | Diseases | Cardiovascular disease | Congenital diseases | Morbidity
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5. Full Text MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome
by Chiavacci, Elena and Daurizio, Romina and Guzzolino, Elena and Russo, Francesco and Baumgart, Mario and Groth, Marco and Mariani, Laura and Donofrio, Mara and Arisi, Ivan and Pellegrini, Marco and Cellerino, Alessandro and Cremisi, Federico and Pitto, Letizia
Scientific Reports, ISSN 2045-2322, 12/2015, Volume 5, Issue 1, p. 18240
Holt-Oram Syndrome (HOS) is an autosomal dominant heart-hand syndrome caused by mutations in the TBX5 gene, a transcription factor capable of regulating... 
CELLS | MEMBERS | GENE | CARDIOMYOCYTE | HEART DEVELOPMENT | MULTIDISCIPLINARY SCIENCES | CARDIOVASCULAR-DISEASE | MIR-17-92 CLUSTER | TBX5 | EXPRESSION | VALVE FORMATION | Abnormalities, Multiple - pathology | Multigene Family | Genomics | Zebrafish - embryology | Heart Defects, Congenital - genetics | Upper Extremity Deformities, Congenital - therapy | RNA Interference | Animal Fins - embryology | Gene Expression Regulation, Developmental | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Genome-Wide Association Study | Embryonic Development - genetics | Heart Defects, Congenital - pathology | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Zebrafish - genetics | Heart Septal Defects, Atrial - therapy | Phenotype | Animals | Abnormalities, Multiple - therapy | Lower Extremity Deformities, Congenital - therapy | Heart Defects, Congenital - therapy | MicroRNAs - genetics | Animal Fins - pathology | Heart Septal Defects, Atrial - pathology | Genetic Therapy - methods | Lower Extremity Deformities, Congenital - pathology | Heart | TBX5 gene | MiRNA | Gene expression | Embryos | Heart diseases | Defects | Holt-Oram syndrome
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6. Full Text Tbx5 Buffers Inherent Left/Right Asymmetry Ensuring Symmetric Forelimb Formation
by Sulaiman, Fatima A and Nishimoto, Satoko and Murphy, George R. F and Kucharska, Anna and Butterfield, Natalie C and Newbury-Ecob, Ruth and Logan, Malcolm P. O
PLoS Genetics, ISSN 1553-7390, 12/2016, Volume 12, Issue 12, p. e1006521
The forelimbs and hindlimbs of vertebrates are bilaterally symmetric. The mechanisms that ensure symmetric limb formation are unknown but they can be disrupted... 
SITUS-INVERSUS | MALFORMATIONS | BILATERAL SYMMETRY | MUTATION | GENETICS & HEREDITY | LIMB MORPHOGENESIS | MICE | OUTGROWTH | HOLT-ORAM-SYNDROME | EXPRESSION | MOUSE LIMB | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Forelimb - growth & development | Embryo, Mammalian | Humans | Embryonic Development - genetics | Heart Defects, Congenital - pathology | Somites - growth & development | Upper Extremity Deformities, Congenital - pathology | DNA-Binding Proteins - genetics | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Animals | Gene Expression Regulation, Developmental | Heart Septal Defects, Atrial - genetics | Mice | Limb Buds - growth & development | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Limb Deformities, Congenital - pathology | Lower Extremity Deformities, Congenital - pathology | Scholarships & fellowships | Asymmetry | Colleges & universities | Symmetry
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7. Full Text Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray
by Stipoljev, Feodora and Miric-Tesanic, Danka and Hafner, Tomislav and Barbalic, Maja and Logara, Monika and Lasan-Trcic, Ruzica and Vicic, Ana and Gjergja-Juraski, Romana
European Journal of Medical Genetics, ISSN 1769-7212, 11/2017, Volume 60, Issue 11, pp. 589 - 594
We report the first trimester three-dimensional ultrasonographic findings in a 13-week-old fetus with complex phenotype and a 4.7 Mb multigene deletion... 
Chromosome 20 deletion | Radial ray anomaly | ADNP | Microarray | Ventriculomegaly | SALL4 | STEM-CELLS | PROLIFERATION | GENE | NOVO KCNB1 MUTATIONS | GENETICS & HEREDITY | MOLYBDENUM COFACTOR DEFICIENCY | OKIHIRO-SYNDROME | CLINICAL PHENOTYPE | EPILEPTIC ENCEPHALOPATHY | Heart Septal Defects, Atrial - diagnostic imaging | Humans | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnostic imaging | Adult | Female | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Chromosome Deletion | Shab Potassium Channels - genetics | Diagnosis, Differential | Abnormalities, Multiple - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnosis | Transcription Factors - genetics | Upper Extremity Deformities, Congenital - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Pregnancy | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Upper Extremity Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 20 - genetics | Genetic research | Genetic aspects | Diagnostic imaging | Ultrasound imaging | Pregnant women | Genomics | Medical colleges | Medical genetics | Cytogenetics
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8. Full Text TBX5: A Key Regulator of Heart Development
by Steimle, J.D and Moskowitz, I.P
Current Topics in Developmental Biology, ISSN 0070-2153, 12/2017, Volume 122, pp. 195 - 221
TBX5 is a member of the T-box transcription factor family and is primarily known for its role in cardiac and forelimb development. Human patients with dominant... 
Cardiac morphogenesis | Cardiac development | TBX5 | Transcriptional regulation | Holt–Oram syndrome | NUCLEAR-LOCALIZATION | DEFINED FACTORS | DNA-BINDING | CARDIAC CONDUCTION SYSTEM | ATRIAL SEPTATION | DEVELOPMENTAL BIOLOGY | HOLT-ORAM-SYNDROME | TRANSCRIPTION FACTOR TBX5 | DISTINCT EXPRESSION | SCN5A EXPRESSION | T-BOX GENES | Haploinsufficiency - genetics | Heart - embryology | Humans | Gene Regulatory Networks | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Heart Defects, Congenital - genetics | Animals | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Disease Models, Animal
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9. Full Text Postmortem Diagnosis of Heart-hand Syndrome Associated With a 7p22.1p22.3 Deletion in a 16-week-old Fetus
by Tessier, Aude and Callier, Patrick and LeMeur, Nathalie and Frebourg, Thierry and Sabourin, Jean-Christophe and Patrier, Sophie
Pediatric and Developmental Pathology, ISSN 1093-5266, 3/2019, Volume 22, Issue 2, pp. 146 - 151
We report a male fetus with a 6.8 Mb deletion on chromosome 7p22.1p22.3 at 16 weeks of gestation. The fetus presented a heart-hand syndrome with great artery... 
7p22.1p22.3 deletion | RAC1 | radial ray deficiency | SNX8 | great arteries malposition | Humans | Lower Extremity Deformities, Congenital - diagnosis | Male | Genetic Markers | Upper Extremity Deformities, Congenital - genetics | Chromosomes, Human, Pair 7 | Heart Septal Defects, Atrial - diagnosis | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - genetics | Fetal Death | Abnormalities, Multiple - diagnosis | Gene Deletion | Heart Defects, Congenital - diagnosis | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | rac1 GTP-Binding Protein - genetics | 7p22 | 1p22 | PATHOLOGY | TBX5 | REGION | 3 deletion | LIMB | TETRALOGY | GENE | CARDIAC-MALFORMATIONS | PEDIATRICS | MUTATIONS
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10. Full Text Holt–Oram Syndrome
by Goldfarb, Charles A., MD and Wall, Lindley B., MD
Journal of Hand Surgery, ISSN 0363-5023, 2014, Volume 39, Issue 8, pp. 1646 - 1648
Orthopedics | SURGERY | ORTHOPEDICS | ANOMALIES | MANIFESTATIONS | Humans | Genotype | Lower Extremity Deformities, Congenital - diagnosis | Upper Extremity Deformities, Congenital - genetics | Heart Septal Defects, Atrial - diagnosis | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - genetics | Phenotype | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Children's hospitals
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11. Full Text TBX5 intragenic duplication: A family with an atypical Holt-Oram syndrome phenotype
by Patel, Chirag and Silcock, Lee and McMullan, Dominic and Brueton, Louise and Cox, Helen
European Journal of Human Genetics, ISSN 1018-4813, 08/2012, Volume 20, Issue 8, pp. 863 - 869
Holt-Oram syndrome (HOS) is a rare autosomal dominant heart-hand syndrome due to mutations in the TBX5 transcription factor. Affected individuals can have... 
congenital heart disease | limb anomalies | TBX5 | array-CGH | duplication | Holt-Oram syndrome | PARTIAL TRISOMY 12Q | BIOCHEMISTRY & MOLECULAR BIOLOGY | ATRIAL-FIBRILLATION | LIMB | HEART-DISEASE | GENE | GENETICS & HEREDITY | FUNCTIONAL-ANALYSIS | MUTATIONS | CARDIOGENESIS | TRANSCRIPTION FACTOR | MANIFESTATIONS | Gene Duplication | Computational Biology - methods | Humans | Lower Extremity Deformities, Congenital - diagnosis | Male | Upper Extremity Deformities, Congenital - genetics | Heart Septal Defects, Atrial - diagnosis | T-Box Domain Proteins - genetics | DNA Copy Number Variations | Upper Extremity Deformities, Congenital - diagnosis | Young Adult | Heart Defects, Congenital - genetics | Phenotype | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Adult | Family | Female | Heart Defects, Congenital - diagnosis | Heart Septal Defects, Atrial - genetics | Chromosomes, Human, Pair 12 | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | TBX5 gene | Heart | Conduction | Transcription factors | Exons | Genomics | Genes | Tbx5 protein | Stenosis | Dislocation | Defects | Cell adhesion & migration | Fibrillation | Genetics | Rheumatic heart disease | Localization | Heart diseases | Hypoplasia | Breakpoints | Phenotypes | Mitral valve | Congenital diseases | Splicing | Introns | Lung diseases | Coronary heart disease | Haploinsufficiency | Alleles | Mutation | Limbs | Head | Finger | tbx5 protein | Sinus | genomics | Holt–Oram syndrome
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12. Full Text A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance
by Tsurusaki, Yoshinori and Saitoh, Shinji and Tomizawa, Kazuhiro and Sudo, Akira and Asahina, Naoko and Shiraishi, Hideaki and Ito, Jun-ichi and Tanaka, Hajime and Doi, Hiroshi and Saitsu, Hirotomo and Miyake, Noriko and Matsumoto, Naomichi
neurogenetics, ISSN 1364-6745, 11/2012, Volume 13, Issue 4, pp. 327 - 332
Whole-exome sequencing of two affected sibs and their mother who showed a unique quadriceps-dominant form of neurogenic muscular atrophy disclosed a... 
Human Genetics | Charcot–Marie–Tooth disease | DYNC1H1 | Neurosciences | Biomedicine | Allelic disease | Whole-exome sequencing | Molecular Medicine | Spinal muscular atrophy with lower extremity predominance | Charcot-Marie-Tooth disease | DEFECTS | GENETICS & HEREDITY | CLINICAL NEUROLOGY | Humans | Middle Aged | Cytoplasmic Dyneins - genetics | Molecular Sequence Data | Male | Tomography, X-Ray Computed | Muscular Atrophy, Spinal - pathology | Sequence Analysis, DNA | Exome | Muscular Atrophy, Spinal - genetics | Genes, Dominant | Lower Extremity Deformities, Congenital - diagnostic imaging | Pedigree | Base Sequence | Muscle, Skeletal - diagnostic imaging | Adolescent | Female | Muscle, Skeletal - pathology | Mutation | Child | Lower Extremity Deformities, Congenital - genetics | Muscular Atrophy, Spinal - diagnostic imaging | Lower Extremity Deformities, Congenital - pathology | Spinal cord | Muscular system
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13. Full Text Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations
by Guo, Qianqian and Shen, Jia and Liu, Yang and Pu, Tian and Sun, Kun and Chen, Sun
Cellular Physiology and Biochemistry, ISSN 1015-8987, 09/2015, Volume 37, Issue 3, pp. 1066 - 1074
Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes,... 
Original Paper | Mutations | TBX5 | Exome sequencing | Holt-Oram syndrome | Abnormalities, Multiple - pathology | RNA Splice Sites | Oligonucleotide Array Sequence Analysis - methods | Humans | Heart Defects, Congenital - pathology | Genetic Association Studies - methods | Infant | Male | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Exome | Guanine - metabolism | Heart Defects, Congenital - genetics | Point Mutation | Cytosine - metabolism | Pedigree | Adult | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Sequence Analysis, DNA - methods | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology
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14. Full Text Unexplained right atrial enlargement may be a sign of Holt–Oram syndrome in the fetus
by Paladini, D and Tiesi, M and Buffi, D and Tuo, G and Marasini, M
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 04/2014, Volume 43, Issue 4, pp. 475 - 476
Two cases of ultrasound diagnosis of Holt–Oram syndrome are described. Both were characterized by significant right atrial enlargement that was not due to... 
fetal echocardiography | atriodigital dysplasia | right atrium | fetus | skeletal anomaly | ACOUSTICS | DIAGNOSIS | MALFORMATIONS | DISEASE | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | OBSTETRICS & GYNECOLOGY | Heart Atria - pathology | Heart Defects, Congenital - embryology | Humans | Prenatal Diagnosis | Lower Extremity Deformities, Congenital - diagnosis | Male | Upper Extremity Deformities, Congenital - genetics | Genetic Counseling | Heart Septal Defects, Atrial - diagnosis | Abortion, Induced | Pregnancy | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | Abnormalities, Multiple - diagnosis | Ultrasonography | Upper Extremity Deformities, Congenital - embryology | Female | Fetus | Heart Defects, Congenital - diagnosis | Upper Extremity Deformities, Congenital - diagnostic imaging | Cardiomegaly - genetics | Infant, Newborn | Pregnancy Outcome
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15. Full Text Asymmetric Lower-Limb Malformations in Individuals with Homeobox PITX1 Gene Mutation
by Gurnett, Christina A and Alaee, Farhang and Kruse, Lisa M and Desruisseau, David M and Hecht, Jacqueline T and Wise, Carol A and Bowcock, Anne M and Dobbs, Matthew B
The American Journal of Human Genetics, ISSN 0002-9297, 11/2008, Volume 83, Issue 5, pp. 616 - 622
Clubfoot is one of the most common severe musculoskeletal birth defects, with a worldwide incidence of 1 in 1000 live births. In the present study, we describe... 
RIEGER-SYNDROME | PELVIC REDUCTION | MORPHOGENESIS | LINKAGE ANALYSES | FAMILIES | GENETICS & HEREDITY | TALIPES EQUINOVARUS | SMALL PATELLA SYNDROME | HINDLIMB | HOMEODOMAIN PROTEIN | CLUB FOOT | Haplotypes | Paired Box Transcription Factors - genetics | Humans | Molecular Sequence Data | Male | Mutation, Missense | Case-Control Studies | Lod Score | Congenital Abnormalities - genetics | Genes, Dominant | Lower Extremity Deformities, Congenital - diagnostic imaging | Conserved Sequence | Female | Lysine - metabolism | Lower Extremity Deformities, Congenital - genetics | Genetic Linkage | Amino Acid Sequence | Gene Frequency | Models, Molecular | Chromosome Mapping | Genetic Markers | Transcription Factors - genetics | Chromosomes, Human, Pair 5 | Radiography | Pedigree | Alleles | Heterozygote | Polymorphism, Single Nucleotide | Mutation | Amino Acid Substitution | Gene mutations | Developmental biology | Analysis | Genes | Genomics | Development and progression | Birth defects | Genetic aspects | Report
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