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Article

Gorlin-like phenotype in a patient with a PTCH2 variant of uncertain significance.

European journal of medical genetics - 1 Apr 2020

Casano Kelsey, Meddaugh Hannah, Zambrano Regina M, Marble Michael, Torres Jairo I, Lacassie Yves

Abstract excerpt

Gorlin syndrome, also known as Nevoid Basal-Cell Carcinoma Syndrome (NBCCS), is an autosomal dominant tumor predisposition syndrome that presents early in life with characteristic congenital malformations and tumors. This syndrome most commonly results from germline mutations of the PTCH1 tumor suppressor gene, which shows high penetrance and great intra and interfamilial phenotypic variability, as well as the...

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PMID: 31945512
DOI: 10.1016/j.ejmg.2020.103842

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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