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Article

Novel PTCH1 Mutation Causes Gorlin-Goltz Syndrome.

The Chinese journal of dental research - 28 Mar 2024

Yue Hai Tang, Cao Hai Yan, He Miao

Abstract excerpt

OBJECTIVE: To analyse the aetiology and pathogenesis of Gorlin-Goltz syndrome (GS; also known as nevoid basal cell carcinoma syndrome [NBCCS] or basal cell nevus syndrome [BCNS]) in a Chinese family. METHODS: Whole-exome sequencing (WES) was performed on genomic DNA samples from the subjects in a family, followed by the investigation of pathogenesis via bioinformatic approaches and conformational analysis....

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Identifiers

PMID: 38546523
DOI: 10.3290/j.cjdr.b5128601

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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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