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Article

Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.

American journal of medical genetics. Part A - 1 Jun 2007

Lowry R Brian, Gould Douglas B, Walter Michael A, Savage Paul R

Abstract excerpt

This study reports a 25-year follow-up of a patient with De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephalus, and hearing loss) whose intelligence is normal. Short stature and hyperlaxity of joints later leading to severe joint pain were noted. Mutation analysis of candidate genes known o...

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Source

Identifiers

PMID: 17486624
DOI: 10.1002/ajmg.a.31732

Genes

BARX1
FOXC1
PITX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17486624-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Absence of PITX2, BARX1, and FOXC1 mutations in De Hauwere syndrome (Axenfeld-Rieger anomaly, hydrocephaly, hearing loss): a 25-year follow up.PMID 17486624Read ↗

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