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A novel PTCH1 mutation in a patient with Gorlin syndrome

Gorlin syndrome is an autosomal dominant disorder characterized by a wide range of developmental abnormalities and a predisposition to various tumors, and it is linked to the alteration of several causative genes, including PTCH1. We performed targeted resequencing using a next-generation sequencer...

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Detalles Bibliográficos
Autores principales:	Okamoto, Nana, Naruto, Takuya, Kohmoto, Tomohiro, Komori, Takahide, Imoto, Issei
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2014
Materias:	Data Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785514/ https://www.ncbi.nlm.nih.gov/pubmed/27081512 http://dx.doi.org/10.1038/hgv.2014.22

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