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European Journal of Human Genetics, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes... 
BLEPHAROPHIMOSIS | DE-NOVO MUTATIONS | MENTAL-RETARDATION | CAUSE GENITOPATELLAR SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | OHDO SYNDROME | HISTONE ACETYLTRANSFERASE KAT6B | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics
Journal Article
Clinical Genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome ( SBBYSS ) and genitopatellar syndrome ( GTPTS ) are clinically similar disorders with some overlapping features.... 
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | BLEPHAROPHIMOSIS | HISTONE ACETYLTRANSFERASE | FEATURES | RETARDATION | Say-Barber-Biesecker-Young-Simpson syndrome, SBBYSS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype | Index Medicus
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 166 - 171
Journal Article
2010, ISBN 1405162406, x, 309
Three Dimensional Imaging for Orthodontics and Maxillofacial Surgery is a major new specialist resource that identifies and applies the principles of three... 
General Dentistry | Face | Orthodontics | Surgery | Maxilla | Three-dimensional imaging in medicine
Book
The Cleft Palate-Craniofacial Journal, ISSN 1055-6656, 11/2017, Volume 54, Issue 6, pp. 749 - 753
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 27 - 43
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2016, Volume 170, Issue 7, pp. 1754 - 1762
The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis.... 
BAF complex | exome analysis | SMARCA2 | ARID1B | facial dysmorphology analysis | COFFIN-SIRIS SYNDROME | GENOTYPE | GENETICS & HEREDITY | PHENOTYPE | CLINICAL EXOME | Face - abnormalities | Humans | Hypotrichosis - physiopathology | Hypotrichosis - genetics | Foot Deformities, Congenital - genetics | Male | Craniofacial Abnormalities - physiopathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Muscular Atrophy - physiopathology | Facies | Foot Deformities, Congenital - physiopathology | Muscular Atrophy - diagnosis | Female | Nuclear Proteins - genetics | Neck - physiopathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Foot Deformities, Congenital - diagnosis | Muscular Atrophy - genetics | Neck - abnormalities | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Exome - genetics | Phenotype | Craniofacial Abnormalities - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Mutation | Pathology, Molecular | Genetic research | Genes | Genetic aspects | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2013, Volume 8, Issue 8, pp. e73576 - e73576
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an... 
OCULODENTODIGITAL DYSPLASIA | FORAMEN MAGNUM DECOMPRESSION | CONNEXIN43 | TGF-BETA | BONE-FORMATION | MULTIDISCIPLINARY SCIENCES | MOUSE MODEL | JUNCTIONAL INTERCELLULAR COMMUNICATION | PARATHYROID-HORMONE | PHE377DEL MUTATION | OSTEOBLASTIC CELLS | Amino Acid Sequence | Tooth Abnormalities - diagnosis | Eye Abnormalities - diagnosis | Tooth Abnormalities - genetics | Genetic Association Studies | Humans | Molecular Sequence Data | Foot Deformities, Congenital - diagnosis | Foot Deformities, Congenital - genetics | Mutation, Missense | Eye Abnormalities - genetics | Genes, Recessive | Exome | Connexin 43 - chemistry | Sequence Alignment | Craniofacial Abnormalities - diagnosis | Pedigree | Consanguinity | High-Throughput Nucleotide Sequencing | Syndactyly - diagnosis | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Syndactyly - genetics | Phosphates | Dysplasia | Genetic aspects | Glutamine | Oculodentodigital dysplasia | Osteocytes | Genomes | Connexin 43 | Osteoblasts | Molecular weight | Proteins | Ethics | Biomedical materials | Missense mutation | Low molecular weights | Bone dysplasia | Bones | Biocompatibility | Deoxyribonucleic acid--DNA | Bone remodelling | Developmental biology | Abnormalities | Gap junctions | C-Terminus | Craniometaphyseal dysplasia | Hospitals | Chondrocytes | Syndactyly | Osteoclasts | Mutation | Bone | Transporter | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
2010, 3rd ed., ISBN 0470191414, xxii, 962
Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics... 
Genetic disorders | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book