Focal Dermal Hypoplasia (FDH) and WNT10A-Related Ectodermal Dysplasia (ED)
摘要
Also known as Goltz syndrome, focal dermal hypoplasia (FDH) is a rare congenital multisystemic genodermatosis affecting tissues of both ectodermal and mesodermal origin, leading to skin, central nervous system, ocular, skeletal, dental, and cardiac anomalies