Article
Goltz syndrome and PORCN: A view from Europe.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2016
Happle Rudolf
Abstract excerpt
Goltz syndrome (focal dermal hypoplasia) is an X-linked dominant, multisystem birth defect with lethality for male embryos. The hypoplastic skin lesions follow Blaschko's lines and often show herniation of subcutaneous fatty tissue. Extracutaneous defects mainly involve the brain, the bones, the teeth, and the eyes. All of these anomalies show a segmental arrangement reflecting functional X-chromosome mosaicism....
Topics
- Acyltransferases
- Europe
- Focal Dermal Hypoplasia
- Genetic Association Studies
- Humans
- Membrane Proteins
- Mutation
- Phenotype