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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
CES Medicina Veterinaria y Zootecnia, ISSN 1900-9607, 05/2018, Volume 13, Issue 2, pp. 259 - 261
Parente discusses abnormalities affecting the guttural pouches in horses and procedures to identify such deformities. Familiarity with normal anatomy of the... 
Deformities | Deformation | Abnormalities | Hyperplasia | Animal diseases | Guttural pouch | Pouches | Endoscopes | Judgments | Biopsy | Nose | Horses | Familiarity
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 9, pp. 1176 - 1185
textabstractLoss-of-function variants in ANKRD11 were identified as the cause of KBG syndrome, an autosomal dominant syndrome with specific dental,... 
16Q24.3 | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | COGNITIVE IMPAIRMENT | PATIENT | IDENTIFICATION | GENOME | DELETION | HAPLOINSUFFICIENCY | Abnormalities, Multiple - pathology | Tooth Abnormalities - diagnosis | Humans | Middle Aged | Autism Spectrum Disorder - complications | Child, Preschool | Intellectual Disability - complications | Male | Bone Diseases, Developmental - genetics | Bone Diseases, Developmental - pathology | Intellectual Disability - genetics | Exome | DNA Mutational Analysis | Tooth Abnormalities - complications | Gene Deletion | Facies | Adult | Female | Bone Diseases, Developmental - complications | Bone Diseases, Developmental - diagnosis | Child | Abnormalities, Multiple - genetics | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - genetics | Gene Expression | Tooth Abnormalities - genetics | Intellectual Disability - pathology | Repressor Proteins - genetics | Genotype | Autism Spectrum Disorder - pathology | Phenotype | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Adolescent | Chromosomes, Human, Pair 16 | Tooth Abnormalities - pathology | Phenotypes | Hyperactivity | Teeth | Genomes | Neurodevelopmental disorders | Patients | Hip | Hearing loss | Autism | Genotype & phenotype | Hearing | Nose | Phenotyping | Incisors | Genetics | Children | Mutation | Index Medicus
Journal Article
International Journal of Oral & Maxillofacial Surgery, ISSN 0901-5027, 2015, Volume 44, Issue 10, pp. 1246 - 1249
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2018, Volume 94, Issue 3-4, pp. 351 - 355
We present 3 children with homozygous null variants in the PPP1R21 gene. A 3‐year‐old girl had profound developmental delay, hypotonia and weakness, poor... 
vermis hypoplasia | Novel gene | whole‐exome sequencing | PPP1R21 | protein phosphatase | whole-exome sequencing | EXOME | GENETICS & HEREDITY | PEDIATRIC NEUROLOGY | Proteins | Brain | Phosphatases | Abnormalities | Hypoplasia | Cerebellum | Chest | Phenotypes | Nose | Nystagmus | Children | Ventricle | Stereotyped behavior | Substantia alba | Reflexes | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2015, Volume 23, Issue 3, pp. 292 - 301
Journal Article
Developmental Biology, ISSN 0012-1606, 02/2014, Volume 386, Issue 2, pp. 395 - 407
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 6/2004, Volume 101, Issue 23, pp. 8652 - 8657
Journal Article
Development (Cambridge, England), ISSN 0950-1991, 10/2018, Volume 145, Issue 19, p. dev166488
Journal Article