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Article

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.

American journal of medical genetics. Part A - 1 Nov 2010

Girisha Katta M, Lewis Leslie E, Phadke Shubha R, Kutsche Kerstin

Abstract excerpt

Costello syndrome is a rare developmental disorder characterized by coarse face, postnatal growth retardation, skin and musculoskeletal anomalies, cardiovascular abnormalities, mental retardation, and tumor predisposition. Dermatological manifestations usually include redundant, soft and thickene...

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Source

Identifiers

PMID: 20979192
DOI: 10.1002/ajmg.a.33687

Genes

HRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20979192-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.PMID 20979192Read ↗

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.Semantic proximity Read ↗

Recurrent duplication mutation in HRAS causing mild Costello syndrome in a Chinese patient.Semantic proximity Read ↗

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.Semantic proximity Read ↗

Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.Semantic proximity Read ↗

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.Semantic proximity Read ↗

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.Semantic proximity Read ↗

A premature infant with Costello syndrome due to a rare G13C HRAS mutation.Semantic proximity Read ↗

Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.Semantic proximity Read ↗

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.Semantic proximity Read ↗

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.Semantic proximity Read ↗

Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.Semantic proximity Read ↗

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.Semantic proximity Read ↗

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