Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.
Feller
Liviu
L
Department of Periodontology and Oral Medicine, School of Dentistry, University of Limpopo (Medunsa Campus), Pretoria, South Africa. lfeller@medunsa.ac.za
Wood
Neil H
NH
Sluiter
Michelle D
MD
Noffke
Claudia
C
Raubenheimer
Erich J
EJ
Lemmer
Johan
J
van Rensburg
Elizabeth J
EJ
D044383:Black People / Q000235:genetics; D002648:Child; D018031:Connexin 43 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics* / Q000503:physiopathology; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D008297:Male; D009154:Mutation; D018126:Odontodysplasia / Q000235:genetics* / Q000503:physiopathology; D013019:South Africa; D013576:Syndactyly; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics
D018031:Connexin 43; C500216:GJA1 protein, human