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Article

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.

PloS one - 1 Jan 2015

Morita Kei-ichi, Naruto Takuya, Tanimoto Kousuke, Yasukawa Chisato, Oikawa Yu, Masuda Kiyoshi, Imoto Issei, Inazawa Johji, Omura Ken, Harada Hiroyuki

Abstract excerpt

Gorlin syndrome (GS) is an autosomal dominant disorder that predisposes affected individuals to developmental defects and tumorigenesis, and caused mainly by heterozygous germline PTCH1 mutations. Despite exhaustive analysis, PTCH1 mutations are often unidentifiable in some patients; the failure to detect mutations is presumably because of mutations occurred in other causative genes or outside of analyzed regions...

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Source

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Identifiers

PMID: 26544948
DOI: 10.1371/journal.pone.0140480
PMCID: PMC4636311

Genes

PTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome.PMID 26544948Read ↗

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