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Article

Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

Journal of human genetics - 1 Dec 2010

Komatsuzaki Shoko, Aoki Yoko, Niihori Tetsuya, Okamoto Nobuhiko, Hennekam Raoul C M, Hopman Saskia, Ohashi Hirofumi, Mizuno Seiji, Watanabe Yoriko, Kamasaki Hotaka, Kondo Ikuko, Moriyama Nobuko, Kurosawa Kenji, Kawame Hiroshi, Okuyama Ryuhei, Imaizumi Masue, Rikiishi Takeshi, Tsuchiya Shigeru, Kure Shigeo, Matsubara Yoichi

Abstract excerpt

Noonan syndrome is an autosomal dominant disease characterized by dysmorphic features, webbed neck, cardiac anomalies, short stature and cryptorchidism. It shows phenotypic overlap with Costello syndrome and cardio-facio-cutaneous (CFC) syndrome. Noonan syndrome and related disorders are caused by germline mutations in genes encoding molecules in the RAS/MAPK pathway. Recently, a gain-of-function mutation in...

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Source

Identifiers

PMID: 20882035
DOI: 10.1038/jhg.2010.116

Genes

BRAF
HRAS
KRAS
PTPN11
RAF1
SOS1

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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