An Xp11.23 deletion containing PORCN may also cause angioma serpiginosum, a cosmetic skin disease associated with extreme skewing of X-inactivation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg200887.pdf
Reference3 articles.
1. Blinkenberg EO, Brendehaug A, Sandvik AK, Vatne O, Hennekam RC, Houge G : Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12. Eur J Hum Genet 2007; 15: 543–547.
2. Grzeschik KH, Bornholdt D, Oeffner F et al: Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia. Nat Genet 2007; 39: 833–835.
3. Wang X, Reid Sutton V, Omar Peraza-Llanes J et al: Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet 2007; 39: 836–838.
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