Article
Goltz syndrome and PORCN mosaicism.
International journal of dermatology - 1 Dec 2014
Stevenson David A, Chirpich Meghan, Contreras Yvonne, Hanson Heather, Dent Karin
Abstract excerpt
Goltz syndrome, also known as focal dermal hypoplasia, is characterized primarily by ectodermal and mesodermal defects. Manifestations include cutis aplasia, dermal hypoplasia, papillomas, chorioretinal colobomas, absent/dysplastic teeth, and skeletal anomalies. Goltz syndrome is an X-linked disorder due to mutations in PORCN, with a predominance of females affected. Germline mutations in PORCN are thought to...
Topics
- Abnormalities, Multiple
- Acyltransferases
- Fingers
- Focal Dermal Hypoplasia
- Humans
- Infant, Newborn
- Male
- Membrane Proteins
- Mosaicism
- Mutation
- Syndactyly
- Toes