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Article

SALL1 mutations in Townes-Brocks syndrome and related disorders.

Human mutation - 1 Dec 2000

Kohlhase J

Abstract excerpt

Townes-Brocks syndrome (TBS) is a rare autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. TBS has been shown to result from mutations in SALL1, a human gene related to the developmental regulator sal of Drosophila melanogaster. The SALL1 gene product is a zinc finger protein thought to act as a transcription factor. It contains four highly conserved C2H2...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11102974
DOI: 10.1002/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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