An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation
Open Access
- 14 May 2008
- journal article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 16 (9), 1027-1028
- https://doi.org/10.1038/ejhg.2008.87
Abstract
No abstract availableKeywords
This publication has 3 references indexed in Scilit:
- Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasiaNature Genetics, 2007
- Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasiaNature Genetics, 2007
- Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3–Xq12European Journal of Human Genetics, 2007