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Article

The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).

Ophthalmic genetics - 1 Dec 2008

Barry John S, Reddy M Ashwin

Abstract excerpt

INTRODUCTION: Townes-Brocks Syndrome (TBS) is an autosomal dominant condition characterized by renal, anal, ear and thumb anomalies caused by SALL1 mutations. Ocular manifestations reported have included congenital cataracts, unilateral microphthalmia, optic nerve atrophy, and unilateral visual l...

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Source

Identifiers

PMID: 19005989
DOI: 10.1080/13816810802354224

Genes

SALL1
SALL4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19005989-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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The association of an epibulbar dermoid and Duane syndrome in a patient with a SALL1 mutation (Townes-Brocks Syndrome).PMID 19005989Read ↗

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SALL1 mutations in sporadic Townes-Brocks syndrome are of predominantly paternal origin without obvious paternal age effect.Semantic proximity Read ↗

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Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature.Semantic proximity Read ↗

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.Semantic proximity Read ↗

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