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Article

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

American journal of medical genetics - 15 Aug 2001

Surka W S, Kohlhase J, Neunert C E, Schneider D S, Proud V K

Abstract excerpt

Townes-Brocks syndrome (TBS) is a condition with imperforate anus, hand anomalies, and ear malformations with sensorineural hearing loss. Many cases are sporadic. Within and between families, the phenotype displays striking variability. Recently, the disease-causing gene for TBS was identified as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11484202
DOI: 10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11484202-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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