Unexpected phenotype in a frameshift mutation of PTCH1

Unexpected phenotype in a frameshift mutation of PTCH1

Abstract 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 ma...

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Main Authors: Benedetta Beltrami, Elisabetta Prada, Gianluca Tolva, Giulietta Scuvera, Rosamaria Silipigni, Daniela Graziani, Gaetano Bulfamante, Cristina Gervasini, Paola Marchisio, Donatella Milani
Format: Article
Language:English
Published: Wiley 2020-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
9q22.3 microdeletion syndrome
craniosynostosis
Gorlin syndrome
PTCH1
Online Access:https://doi.org/10.1002/mgg3.987

Internet

https://doi.org/10.1002/mgg3.987

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