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Article

Molecular analysis of SALL1 mutations in Townes-Brocks syndrome.

American journal of human genetics - 1 Feb 1999

Kohlhase J, Taschner P E, Burfeind P, Pasche B, Newman B, Blanck C, Breuning M H, ten Kate L P, Maaswinkel-Mooy P, Mitulla B, Seidel J, Kirkpatrick S J, Pauli R M, Wargowski D S, Devriendt K, Proesmans W, Gabrielli O, Coppa G V, Wesby-van Swaay E, Trembath R C, Schinzel A A, Reardon W, Seemanova E, Engel W

Abstract excerpt

Townes-Brocks syndrome (TBS) is an autosomal dominantly inherited malformation syndrome characterized by anal, renal, limb, and ear anomalies. Recently, we showed that mutations in the putative zinc finger transcription factor gene SALL1 cause TBS. To determine the spectrum of SALL1 mutations and to investigate the genotype-phenotype correlations in TBS, we examined 23 additional families with TBS or similar...

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Source

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Identifiers

PMID: 9973281
DOI: 10.1086/302238
PMCID: PMC1377753

Genes

SALL1

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.

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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.Semantic proximity Read ↗

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