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Article

Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

European journal of medical genetics - 1 Jan 2000

Martinez-Glez Victor, Lorda-Sanchez Isabel, Ramirez Jose Manuel, Ruiz-Barnes Pedro, Rodriguez de Alba Marta, Diego-Alvarez Dan, Ramos Carmen, Searby Charles C, Nishimura Darryl Y, Ayuso Carmen

Abstract excerpt

We report a 22-year-old female with a variant of the Axenfeld-Rieger Syndrome (ARS) and discuss its relation with the subtelomeric 6p deletion. An ARS variant has been described in two familial cases of Axenfeld-Rieger Anomaly (ARA) featuring specific extra ocular manifestations-hypertelorism, midface hypoplasia, mild sensorial deafness, hydrocephaly, psychomotor delay and flattened femoral epiphyses. We proposed...

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Source

Identifiers

PMID: 17157569
DOI: 10.1016/j.ejmg.2006.10.005

Genes

FOXC1

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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