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Article

Retinal dystrophy in two boys with Costello syndrome due to the HRAS p.Gly13Cys mutation.

American journal of medical genetics. Part A - 1 May 2017

Pierpont Mary Ella, Richards Mary, Engel W Keith, Mendelsohn Nancy J, Summers C Gail

Abstract excerpt

Features of Costello Syndrome, a systemic disorder caused by germline mutations in the proto-oncogene HRAS from the RAS/MAPK pathway, include failure-to-thrive, short stature, coarse facial features, cardiac defects including hypertrophic cardiomyopathy, intellectual disability, and predisposition to neoplasia. Two unrelated boys with Costello syndrome and an HRAS mutation (p.Gly13Cys) are presented with their...

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Source

Identifiers

PMID: 28337834
DOI: 10.1002/ajmg.a.38110

Genes

HRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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