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Article

Drosophila spalt/spalt-related mutants exhibit Townes-Brocks' syndrome phenotypes.

Proceedings of the National Academy of Sciences of the United States of America - 2 Sept 2003

Dong P D Si, Todi Sokol V, Eberl Daniel F, Boekhoff-Falk Grace

Abstract excerpt

Mutations in SALL1, the human homolog of the Drosophila spalt gene, result in Townes-Brocks' syndrome, which is characterized by hand/foot, anogenital, renal, and ear anomalies, including sensorineural deafness. spalt genes encode zinc finger transcription factors that are found in animals as div...

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Identifiers

PMID: 12925729
DOI: 10.1073/pnas.1836391100
PMCID: PMC193554

Genes

SALL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-12925729-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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