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1998, Practical approach series, ISBN 9780199636570, Volume 188, xx, 242
Book
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2013, Volume 8, Issue 1, pp. e53055 - e53055
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1694 - 1697
Pierre-Robin sequence, radial deviation, and ulnar clinodactyly of the index fingers due to an additional phalangeal bone, as well as heart defects are the key... 
atypical phenotype | Pierre–Robin sequence | TGDS | Catel–Manzke syndrome | fetal pathology | prenatal manifestation | SEQUENCE | GENETICS & HEREDITY | PHENOTYPE | PATIENT | Catel-Manzke syndrome | DESBUQUOIS DYSPLASIA | HYPERPHALANGISM | Pierre-Robin sequence | Tooth Abnormalities - diagnosis | Brachydactyly - physiopathology | Deafness - genetics | Tooth Abnormalities - physiopathology | Mouth Abnormalities - diagnosis | Pierre Robin Syndrome - physiopathology | Humans | Fingers - physiopathology | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Female | Hydro-Lyases - genetics | Fingers - abnormalities | Abnormalities, Multiple - genetics | Tooth Abnormalities - genetics | Prenatal Diagnosis | Deafness - physiopathology | Fetus - physiopathology | Mouth Abnormalities - genetics | Abnormalities, Multiple - physiopathology | Deafness - diagnosis | Pierre Robin Syndrome - diagnosis | Intellectual Disability - physiopathology | Pregnancy | Pierre Robin Syndrome - genetics | Hand Deformities, Congenital - genetics | Brachydactyly - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Brachydactyly - diagnosis | Heterozygote | Heart Defects, Congenital - physiopathology | Mutation | Mouth Abnormalities - physiopathology | Hypoplasia | Radiography | Edema | Prenatal diagnosis | Fetuses | Fingers & toes | Prenatal development | Gestation | Brachydactyly | Clubfoot | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3150 - 3154
Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including... 
GJA1 | pulmonary stenosis | ventricular septal defect | Ventricular septal defect | Pulmonary stenosis | GAP-JUNCTION GENE | CONNEXIN43 | DISEASE | GENETICS & HEREDITY | PHENOTYPE | MICE | MODEL | PREVALENCE | GJA1 MUTATIONS | Tooth Abnormalities - physiopathology | Humans | Pulmonary Valve Stenosis - physiopathology | Foot Deformities, Congenital - genetics | Infant | Male | Fingers - physiopathology | Heart Septal Defects, Ventricular - physiopathology | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Tooth Abnormalities - complications | Foot Deformities, Congenital - physiopathology | Female | Foot Deformities, Congenital - complications | Fingers - abnormalities | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Infant, Newborn | Connexin 43 - genetics | Syndactyly - complications | Heart Septal Defects, Ventricular - complications | Heart Septal Defects, Ventricular - genetics | Pulmonary Valve Stenosis - genetics | Tooth Abnormalities - genetics | Pulmonary Valve Stenosis - complications | Eye Abnormalities - genetics | Heart Defects, Congenital - complications | Eye Abnormalities - physiopathology | Heart Defects, Congenital - physiopathology | Mutation | Syndactyly - physiopathology | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Congenital heart disease | Genetic disorders | Heart | Hypoplasia | Oculodentodigital dysplasia | Gap junctions | Stenosis | Septum | Connexin 43 | Patients | Organogenesis | Missense mutation | Nose | Syndactyly | Ventricle | Index Medicus
Journal Article
Annals of the Rheumatic Diseases, ISSN 0003-4967, 06/2017, Volume 76, Issue Suppl 2, p. 1277
BackgroundFingerprint [FP] abnormalities are known in patients with Systemic Sclerosis [SSc]. Little has been described about their frequency, systemic... 
Biometrics | Raynaud disease | Connective tissue diseases | Lung diseases | Standardization | Sclerosis | Quality standards | Vasculitis | Vascular diseases | Fingerprinting | Ischemia | Systemic sclerosis | Ulcers | Quality control | Health risk assessment
Journal Article