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Article

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

American journal of medical genetics. Part A - 15 Sept 2006

Slavotinek A, Li C, Sherr E H, Chudley A E

Abstract excerpt

Fraser syndrome (OMIM 219000) is a rare, autosomal recessive condition with classical features of cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal, and genitourinary malformations, oral clefting and mental retardation. Mutations causing loss of function of the FRAS1 gene have been demo...

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Source

Identifiers

PMID: 16894541
DOI: 10.1002/ajmg.a.31399

Genes

FRAS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16894541-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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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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