title: Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families.
authors.affiliation: aCentre for Human Genetics, Biotech Park bDepartment of Pediatrics, Indira Gandhi Institute of Child Health, Bangalore cDepartment of Anatomy, Medical Genetics Division, Sri Siddhartha Medical College, Tumkur, Karnataka, India.
authors.forename: Abhilash
authors.initials: A
authors.lastname: Dwarakanathan
authors.forename: Meenakshi
authors.initials: M
authors.lastname: Bhat
authors.forename: Sanjeeva
authors.initials: S
authors.lastname: Gn
authors.forename: Swathi
authors.initials: S
authors.lastname: Shetty
mesh_terms: D002648:Child; D002675:Child, Preschool; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007194:India; D008297:Male; D020125:Mutation, Missense; D017384:Sequence Deletion; D013576:Syndactyly / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics*
chemical_list: D018031:Connexin 43; C500216:GJA1 protein, human