Article
Cleft lip in oculodentodigital dysplasia suggests novel roles for connexin43.
Journal of dental research - 1 Jul 2012
Amano K, Ishiguchi M, Aikawa T, Kimata M, Kishi N, Fujimaki T, Murakami A, Kogo M
Abstract excerpt
Oculodentodigital Dysplasia (ODDD) is a rare syndrome involving anomalies in eye, tooth, and digit formation, caused by mutations in CX43/GJA1. In addition to classic dental features, ODDD includes oral and craniofacial accessory symptoms such as characteristic facial appearance and cleft palate....
Topics
- Abnormalities, Multiple
- Adenine
- Animals
- Bone Morphogenetic Protein 4
- Child, Preschool
- Cleft Lip
- Connexin 43
- Epithelium
- Exons
- Eye Abnormalities
- Fingers
- Galactosyltransferases
- Glucosyltransferases
- Glutamic Acid
- Guanine
- Heterozygote
- Humans
- Infant
