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Journal Article
Brain & Development, ISSN 0387-7604, 2014, Volume 37, Issue 5, pp. 527 - 536
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3150 - 3154
ABSTRACT Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features... 
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
Journal Article
The Journal of Foot and Ankle Surgery, ISSN 1067-2516, 09/2018, Volume 57, Issue 5, pp. 997 - 999
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2011, Volume 155A, Issue 9, pp. 2112 - 2124
Journal Article
Pediatric Radiology, ISSN 0301-0449, 12/2014, Volume 44, Issue 12, pp. 1617 - 1619
Proximal focal femoral deficiency (PFFD) is a heterogeneous disorder characterized by various degrees of femoral deficiencies and associated anomalies of the... 
Pediatrics | Proximal focal femoral deficiency | Fuhrmann syndrome | Oncology | WNT7A | Al-Awadi-Raas-Rothschild syndrome | Neuroradiology | Radiography | Medicine & Public Health | Molecular analysis | Nuclear Medicine | Imaging / Radiology | Ultrasound | Child | PHOCOMELIA-SYNDROME | PEDIATRICS | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Humans | Child, Preschool | Foot Deformities, Congenital - genetics | Male | Amenorrhea - genetics | Femur - diagnostic imaging | Pelvis - diagnostic imaging | Femur - abnormalities | Ectromelia - complications | Ectromelia - genetics | Foot Deformities, Congenital - complications | Ectromelia - diagnostic imaging | Amenorrhea - complications | Abnormalities, Multiple - genetics | Hand Deformities, Congenital - diagnostic imaging | Diagnosis, Differential | Hand Deformities, Congenital - complications | Uterus - abnormalities | Abnormalities, Multiple - diagnostic imaging | Foot Deformities, Congenital - surgery | Fibula - abnormalities | Fibula - diagnostic imaging | Phenotype | Hand Deformities, Congenital - genetics | Pelvic Bones - abnormalities | Pelvis - abnormalities | Amenorrhea - diagnostic imaging | Foot Deformities, Congenital - diagnostic imaging | Pelvic Bones - diagnostic imaging | Case studies | Physiological aspects | Diagnosis | Gene mutations | Index Medicus
Journal Article
Neuropharmacology, ISSN 0028-3908, 12/2013, Volume 75, pp. 549 - 556
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disease that results in visible developmental anomalies of the limbs, face, eyes and teeth.... 
Stroke | Hemichannels | Connexin43 | Rare genetic disease | Gap junctional communication | Astrocytes | GAP-JUNCTION CHANNELS | CONNEXIN HEMICHANNELS | CORTICAL ASTROCYTES | NEUROSCIENCES | CX43 HEMICHANNELS | MOUSE MODEL | DEFICIENT | GROWTH | PHARMACOLOGY & PHARMACY | MUTATIONS | DECREASED LEVELS | COMMUNICATION | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Cell Death - genetics | Tooth Abnormalities - complications | Craniofacial Abnormalities - pathology | Foot Deformities, Congenital - complications | Cell Death - drug effects | Neurons - drug effects | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Syndactyly - complications | Astrocytes - drug effects | Gap Junctions - pathology | Tooth Abnormalities - genetics | Connexin 43 - metabolism | Glutamic Acid - pharmacology | Mice, Inbred C57BL | Cells, Cultured | Enzyme Inhibitors - pharmacology | Serine - genetics | Mice, Transgenic | Brain Ischemia - physiopathology | Eye Abnormalities - genetics | Mutation - genetics | Brain Infarction - etiology | Animals | Eye Abnormalities - pathology | Tooth Abnormalities - pathology | Connexin 43 - antagonists & inhibitors | Mice | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Gene mutations | Glycine | Glutamate | Analysis
Journal Article
BMC Musculoskeletal Disorders, ISSN 1471-2474, 12/2013, Volume 14, Issue 1, pp. 338 - 338
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 10/2014, Volume 9, Issue 1, pp. 125 - 125
Journal Article