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

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

American journal of medical genetics. Part A - 1 Jan 2006

Gripp Karen W, Lin Angela E, Stabley Deborah L, Nicholson Linda, Scott Charles I, Doyle Daniel, Aoki Yoko, Matsubara Yoichi, Zackai Elaine H, Lapunzina Pablo, Gonzalez-Meneses Antonio, Holbrook Jennifer, Agresta Cynthia A, Gonzalez Iris L, Sol-Church Katia

Abstract excerpt

Costello syndrome is a rare condition comprising mental retardation, distinctive facial appearance, cardiovascular abnormalities (typically pulmonic stenosis, hypertrophic cardiomyopathy, and/or atrial tachycardia), tumor predisposition, and skin and musculoskeletal abnormalities. Recently mutations in HRAS were identified in 12 Japanese and Italian patients with clinical information available on 7 of the...

Read the complete abstract on PubMed

Topics

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

Share to Skin Abnormalities
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiovascular Abnormalities

Share to Genes, ras

Share to Intellectual Disability

Share to Musculoskeletal Abnormalities

Share to Syndrome

Source

Identifiers

PMID: 16329078
DOI: 10.1002/ajmg.a.31047

Genes

HRAS

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

HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.PMID 16329078Read ↗

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

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

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

Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndromeSemantic proximity Read ↗

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].Semantic proximity Read ↗

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

Germline mutations in HRAS proto-oncogene cause Costello syndrome.Semantic proximity Read ↗

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

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 ↗

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

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

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

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