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Article

Development of a targeted gene panel for the diagnosis of Gorlin syndrome.

International journal of oral and maxillofacial surgery - 1 Nov 2022

Nakamura Y, Onodera S, Takano M, Katakura A, Nomura T, Azuma T

Abstract excerpt

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. A custom panel was generated...

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Identifiers

PMID: 35437209
DOI: 10.1016/j.ijom.2022.03.054

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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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