Preaxial polydactyly associated with a MSX1 mutation and report of two novel mutations.

Abstract excerpt

We report two novel heterozygous missense MSX1 mutations in two Thai families (c.739C>T; p.Pro247Ser and c.607G>A; p.Ala203Thr). The p.Ala203Thr mutation was found in a female patient, her sister, and their father and is associated with unilateral cleft lip and palate, hypodontia, and microdontia. The p.Pro247Ser mutation was found in a three-generation Thai family and was associated with bilateral cleft lip and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amelogenesis Imperfecta
• Share to Anodontia
• Share to Cleft Lip