A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

A novel pathogenic splice-site variant in the PTCH1 gene c.3549+1G>T, associated with Gorlin syndrome: a case report

Abstract Background Gorlin syndrome (GS) is a rare genetic disorder inherited in an autosomal dominant manner caused by genetic variants in PTCH1, SUFU, or PTCH2 genes. It is characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal abnormalities, and predisposition to neopl...

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Bibliographic Details
Main Authors: Paula Conde-Rubio, Ana Julia García-Malinis, Elvira Salvador-Rupérez, Silvia Izquierdo Álvarez, Ricardo González-Tarancón
Format: Article
Language:English
Published: SpringerOpen 2023-12-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Gorlin syndrome
Basal cell carcinoma
Jaw cyst
PTCH1
c.3549+1G>T
Online Access:https://doi.org/10.1186/s43042-023-00463-5

Internet

https://doi.org/10.1186/s43042-023-00463-5

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