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Article

Medically actionable comorbidities in adults with Costello syndrome.

American journal of medical genetics. Part A - 1 Jan 2020

Shikany Amy R, Baker Laura, Stabley Deborah L, Robbins Katherine, Doyle Daniel, Gripp Karen W, Weaver K Nicole

Abstract excerpt

Costello syndrome (CS) is an autosomal-dominant condition caused by activating missense mutations in HRAS. There is little literature describing health concerns specific to adults with CS. Parents of individuals with CS need to know what to anticipate as their children age. We surveyed a group of 20 adults and older adolescents with CS regarding their medical concerns and lifestyle characteristics. We identified...

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Identifiers

PMID: 31680412
DOI: 10.1002/ajmg.a.61394

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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