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Article

Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome.

Journal of medical genetics - 1 Aug 2017

Ikemoto Yu, Takayama Yoshinaga, Fujii Katsunori, Masuda Mokuri, Kato Chise, Hatsuse Hiromi, Fujitani Kazuko, Nagao Kazuaki, Kameyama Kohzoh, Ikehara Hajime, Toyoda Masashi, Umezawa Akihiro, Miyashita Toshiyuki

Abstract excerpt

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder characterised by developmental defects and tumorigenesis, such as medulloblastomas and basal cell carcinomas, caused by mutations of the patched-1 (PTCH1) gene. In this article, we seek to demonstrate a mosaicism containing double mutations in PTCH1 in an individual with NBCCS. METHODS AND RESULTS: A de novo germline...

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Source

Identifiers

PMID: 28363938
DOI: 10.1136/jmedgenet-2016-104490

Genes

PTCH1

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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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