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Article

[Gene mutation and clinical phenotype analysis of patients with Noonan syndrome and hypertrophic cardiomyopathy].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Oct 2017

Liu X H, Ding W W, Han L, Liu X R, Xiao Y Y, Yang J, Mo Y

Abstract excerpt

Objective: To analyze the gene mutations and clinical features of patients with Noonan syndrome and hypertrophic cardiomyopathy. Method: Determined the mutation domain in five cases diagnosed with Noonan syndrome and hypertrophic cardiomyopathy and identified the relationship between the mutant domain and hypertrophic cardiomyopathy by searching relevant articles in pubmed database. Result: Three mutant genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29050118
DOI: 10.3760/cma.j.issn.0578-1310.2017.10.014

Genes

PTPN11
RAF1
MYH6
MYPN
RIT1

Variants

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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