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Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.

Cytogenetic and genome research - 1 Jan 2019

Choi Naye, Ko Jung Min, Shin Seung Han, Kim Ee Kyung, Kim Han Suk, Song Mi Kyoung, Choi Chang Won

Abstract excerpt

Costello syndrome (CS) is a rare genetic disorder characterized by distinctive facial appearance, cardiopulmonary complications, severe growth retardation, skin and skeletal defects, developmental delay, and tumor predisposition. CS is caused by heterozygous de novo mutations in the proto-oncogene HRAS, which is a component of the RAS/mitogen-activated protein kinase pathway. Herein, we reviewed the phenotypic...

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Source

Identifiers

PMID: 31394527
DOI: 10.1159/000502045

Genes

CS
HRAS

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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