New mutations and an updated database for the patched‐1 (PTCH1) gene

BACKGROUND: Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), maxillary keratocysts, and cerebral calcifications. BCNS most commonly is caused by a germline mutation in the patched‐1 (PTCH1) gene. PTCH1 mutations are also descr...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Reinders, Marie G., van Hout, Antonius F., Cosgun, Betûl, Paulussen, Aimée D., Leter, Edward M., Steijlen, Peter M., Mosterd, Klara, van Geel, Michel, Gille, Johan J.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6014442/
https://ncbi.nlm.nih.gov/pubmed/29575684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.380
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