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Article

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.

American journal of medical genetics. Part A - 1 Sept 2025

Taliercio V, Zhao J, Boyden S E, Mao R, Bayrak-Toydemir P, Pflaum A, Palumbos J, Andrews A, Baldwin E E, Welt C, Fait Mackenzie, Botto L D, Viskochil D

Abstract excerpt

Gorlin-Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%-27% of individuals with a clinical diagnosis of GGS do not have a pathogenic variant identified in either...

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Source

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Identifiers

PMID: 40317671
DOI: 10.1002/ajmg.a.64108
PMCID: PMC12339197

Genes

PTCH1
CHD7
SUFU

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

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Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome.PMID 40317671Read ↗

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