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Article

Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11.

American journal of medical genetics. Part A - 1 Dec 2015

Yagasaki Hideaki, Nakane Takaya, Hasebe Youhei, Watanabe Atsushi, Kise Hiroaki, Toda Takako, Koizumi Keiichi, Hoshiai Minako, Sugita Kanji

Abstract excerpt

Most cases of Noonan syndrome (NS) result from mutations in one of the RAS-MAPK signaling genes, including PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF, SHOC2, MEK1 (MAP2K1), and CBL. Cardiovascular diseases of varying severity, such as pulmonary stenosis and hypertrophic cardiomyopathy (HCM), are common in NS patients. RAF1 mutations are most frequent in NS with HCM, while PTPN11 mutations are also well known. Thr73Ile...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 26286251
DOI: 10.1002/ajmg.a.37295

Genes

PTPN11
RAF1
BRAF
KRAS
CBL
NRAS
SOS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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