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De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.

Prenatal diagnosis - 1 Jan 2021

Nwakalor Chidinma, Said-Delgado Sara, Krinshpun Shifra, Velinov Milen

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PMID: 32681669
DOI: 10.1002/pd.5798

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.PMID 32681669Read ↗

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

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

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

Recurring G12S mutation of HRAS in a Chinese child with Costello syndrome with high alkaline phosphatase level.Semantic proximity Read ↗

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.Semantic proximity Read ↗

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

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

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

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

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