Article
Novel clinical and molecular findings in Spanish patients with naevoid basal cell carcinoma syndrome.
The British journal of dermatology - 1 Jan 2018
Alonso N, Cañueto J, Ciria S, Bueno E, Palacios-Alvarez I, Alegre M, Badenas C, Barreiro A, Pena L, Maldonado C, Nespeira-Jato M V, Peña-Penabad C, Azon A, Gavrilova M, Ferrer I, Sanmartin O, Robles L, Hernandez-Martin A, Urioste M, Puig S, Puig L, Gonzalez-Sarmiento R
Abstract excerpt
BACKGROUND: Naevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterized by developmental alterations and multiple basal cell carcinomas. Mutations in PTCH1, which encodes a membrane receptor for Sonic Hedgehog, are associated with the development of the disease. Most of them produce a truncated protein, which is unable to suppress Smoothened protein and continuously activates the...
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