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Article

Targeted exome sequencing and chromosomal microarray for the molecular diagnosis of nevoid basal cell carcinoma syndrome.

Journal of dermatological science - 1 Jun 2017

Matsudate Yoshihiro, Naruto Takuya, Hayashi Yumiko, Minami Mitsuyoshi, Tohyama Mikiko, Yokota Kenji, Yamada Daisuke, Imoto Issei, Kubo Yoshiaki

Abstract excerpt

BACKGROUND: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder mainly caused by heterozygous mutations of PTCH1. In addition to characteristic clinical features, detection of a mutation in causative genes is reliable for the diagnosis of NBCCS; however, no mutations have been identified in some patients using conventional methods. OBJECTIVE: To improve the method for the molecular...

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Share to Basal Cell Nevus Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 28342698
DOI: 10.1016/j.jdermsci.2017.02.282

Genes

PTCH1
TES
PTCH2
SUFU

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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