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Article

Gorlin syndrome with an ovarian leiomyoma associated with a PTCH1 second hit.

American journal of medical genetics. Part A - 1 Apr 2016

Akizawa Yoshika, Miyashita Toshiyuki, Sasaki Ryo, Nagata Reiko, Aoki Ryoko, Ishitani Ken, Nagashima Yoji, Matsui Hideo, Saito Kayoko

Abstract excerpt

We describe a Gorlin syndrome (GS) case with two different second hit mutations of PTCH1, one in a keratocystic odontogenic tumor (KCOT) and the other in an ovarian leiomyoma. GS is a rare genetic condition manifesting as multiple basal cell nevi associated with other features such as medulloblastomas, skeletal abnormalities, and ovarian fibromas. A 21-year-old Japanese woman with a history of two KCOTs was...

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Source

Identifiers

PMID: 26782978
DOI: 10.1002/ajmg.a.37517

Genes

PTCH1

Variants

Provenance

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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