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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 loss with bilateral Brushfield Spots. Iris and chorioretinal colobomata were described in one individual whose daughter...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 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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Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.Semantic proximity Read ↗

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Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.Semantic proximity Read ↗

A<i>SALL1 </i>mutation causes a branchio-oto-renal syndrome-like phenotype: Figure 1Semantic proximity Read ↗

Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation.Semantic proximity Read ↗

[Analysis of a Chinese pedigree affected with Townes-Brocks syndrome due to a novel variant of SALL1 gene and a literature review].Semantic proximity Read ↗

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

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Okihiro syndrome is caused by SALL4 mutations.Semantic proximity Read ↗

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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