Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.

American journal of medical genetics. Part A - 1 May 2012

Gripp Karen W, Hopkins Elizabeth, Serrano Alvaro, Leonard Norma J, Stabley Deborah L, Sol-Church Katia

Abstract excerpt

Costello syndrome was delineated based on its distinctive phenotype including severe failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome, and its inheritance pattern would thus be autosomal dominant. With exception of two...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Costello Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Family

Share to Genes, ras

Share to Megalencephaly

Share to Mosaicism

Share to Proto-Oncogene Mas

Source

Open in PubMed Open full text

Identifiers

PMID: 22488832
DOI: 10.1002/ajmg.a.35294
PMCID: PMC4164267

Genes

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transmission of the rare HRAS mutation (c. 173C > T; p.T58I) further illustrates its attenuated phenotype.PMID 22488832Read ↗

An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.Semantic proximity Read ↗

Costello syndrome associated with novel germline <i>HRAS</i> mutations: An attenuated phenotype?Semantic proximity Read ↗

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

A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C > G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome.Semantic proximity Read ↗

Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics.Semantic proximity Read ↗

The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.Semantic proximity Read ↗

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.Semantic proximity Read ↗

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

A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.Semantic proximity Read ↗

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

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

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.