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Article

Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.

Pediatric nephrology (Berlin, Germany) - 1 Jan 2000

Salerno A, Kohlhase J, Kaplan B S

Abstract excerpt

A 14-year-old African-American boy had chronic renal failure and Townes-Brocks syndrome (TBS). There were no affected family members. Features were imperforate anus, rectoperineal fistula, triphalangeal thumb, bifid thumb, rocker bottom feet, bilateral ear tags, satyr ear, sensorineural hearing loss, hypospadias, bilateral renal hypoplasia, and progressive chronic renal failure. Renal and urological anomalies in...

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Source

Identifiers

PMID: 10654325
DOI: 10.1007/s004670050006

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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Townes-Brocks syndrome and renal dysplasia: a novel mutation in the SALL1 gene.PMID 10654325Read ↗

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SALL1 mutations in Townes-Brocks syndrome and related disorders.Semantic proximity Read ↗

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