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Article

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Dec 2019

Li X Q, Li W J, Gong C X

Abstract excerpt

1例Costello综合征患儿女，3月龄，因体重下降就诊。经查体及相关基因检测发现患儿HRAS基因杂合变异：c.34G>A（p.G12S），此变异为已报道致病变异，但患儿父母及哥哥外周血样本中未见该变异，确诊为Costello综合征。.

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Source

Identifiers

PMID: 31795565
DOI: 10.3760/cma.j.issn.0578-1310.2019.12.013

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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[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].PMID 31795565Read ↗

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