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Article

Molecular study of 33 families with Fraser syndrome new data and mutation review.

American journal of medical genetics. Part A - 1 Sept 2008

van Haelst M M, Maiburg M, Baujat G, Jadeja S, Monti E, Bland E, Pearce K, Hennekam R C, Scambler P J

Abstract excerpt

Fraser syndrome (FS) is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. FS is considered to be the human equivalent of the murine blebbing mutants: in the mouse mutations at five loci cause a phenotype that is comparable to FS in humans, and thus far mutations in two syntenic human genes, FRAS1 and FREM2, have...

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Source

Identifiers

PMID: 18671281
DOI: 10.1002/ajmg.a.32440

Genes

FRAS1
FREM2

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.

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