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Article

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.

American journal of medical genetics - 18 May 1998

Chun K, Siegel-Bartelt J, Chitayat D, Phillips J, Ray P N

Abstract excerpt

The Antley-Bixler syndrome (ABS) is a rare syndrome with synostosis of cranial sutures and elbow joints as minimal diagnostic criteria. The inheritance has been suggested to be autosomal recessive based on two families with sib recurrence with both sexes being affected, and two cases born to consanguineous parents. We report the first case of ABS associated with an apparent dominant de novo mutation in the...

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Source

Identifiers

PMID: 9605588
DOI: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k

Genes

FGFR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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