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Article

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

BMC medical genomics - 30 Oct 2017

Xu Shanshan, Fan Yanjie, Sun Yu, Wang Lili, Gu Xuefan, Yu Yongguo

Abstract excerpt

BACKGROUND: Noonan syndrome (NS) and Noonan syndrome with multiple lentigines (NSML) are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES). METHODS: TS/WES was...

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Source

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Identifiers

PMID: 29084544
DOI: 10.1186/s12920-017-0298-6
PMCID: PMC5663114

Genes

BRAF
RAF1
PTPN11

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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