Article
Evidence of postzygotic mosaicism in a transmitted form of Conradi-Hunermann-Happle syndrome associated with a novel EBP mutation.
Archives of dermatology - 1 Sept 2011
Morice-Picard Fanny, Kostrzewa Elise, Wolf Claude, Benlian Pascale, Taïeb Alain, Lacombe Didier
Abstract excerpt
BACKGROUND: X-linked dominant chondrodysplasia punctata, also known as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short stature, craniofacial defects, cataracts, ichthyosis, coarse hair, and alopecia. Conradi-Hünermann-Happle syndrome is caused by mutations in the gene EBP encoding Δ(8)-Δ(7) sterol isomerase emopamil-binding protein. Random X-inactivation could account for...
Topics
- Child
- Chondrodysplasia Punctata
- DNA Mutational Analysis
- Female
- Gas Chromatography-Mass Spectrometry
- Humans
- Mosaicism
- Mutation
- Steroid Isomerases
- Sterols