Unexpected phenotype in a frameshift mutation of PTCH1

BACKGROUND: Gorlin syndrome, also known as basal cell nevus syndrome (BCNS), is a rare autosomal dominant genetic condition, characterized by the presence of multiple basal cell carcinomas at a young age, odontogenic keratocysts, skeletal anomalies, macrocephaly, and dysmorphisms. BCNS is mainly cau...

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Detalles Bibliográficos
Autores principales: Beltrami, Benedetta, Prada, Elisabetta, Tolva, Gianluca, Scuvera, Giulietta, Silipigni, Rosamaria, Graziani, Daniela, Bulfamante, Gaetano, Gervasini, Cristina, Marchisio, Paola, Milani, Donatella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6978275/
https://www.ncbi.nlm.nih.gov/pubmed/31578813
http://dx.doi.org/10.1002/mgg3.987

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