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Article

Fraser syndrome due to mutations in GRIP1--clinical phenotype in two families and expansion of the mutation spectrum.

American journal of medical genetics. Part A - 1 Mar 2014

Schanze Denny, Kayserili Hülya, Satkın Bilge N, Altunoglu Umut, Zenker Martin

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Identifiers

PMID: 24357607
DOI: 10.1002/ajmg.a.36343

Genes

GRIP1

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Related research

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Research trail→

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The Novel Mutations in the FRAS1 Gene: Two Case ReportSemantic proximity Read ↗

Mutations in GRIP1 cause Fraser syndrome.Semantic proximity Read ↗

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Fraser syndrome due to homozygosity for a splice site mutation of FREM2.Semantic proximity Read ↗

A direct functional link between the multi-PDZ domain protein GRIP1 and the Fraser syndrome protein Fras1Semantic proximity Read ↗

Variable presentation of Fraser syndrome in two fetuses and a novel mutation in FRAS1.Semantic proximity Read ↗

Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.Semantic proximity Read ↗

Prenatal diagnosis of Fraser syndrome using routine ultrasound examination, confirmed by exome sequencing: Report of a novel homozygous missense FRAS1 mutation.Semantic proximity Read ↗

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