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Article

Two cases of Townes-Brocks syndrome.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1999

Doray B, Langer B, Stoll C

Abstract excerpt

Townes-Brocks syndrome (TBS) has been recognized as a dominant inherited syndrome. We report 2 cases of TBS. Case 1 was operated on for imperforate anus. Triphalangeal thumb and ear anomalies were remarkable. Deafness was diagnosed when the patient was 6 months old. Anomalies of the semicircular canals and the incus with inculomalleolar fusion were shown when the patient was 3.5 years old. During childhood,...

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Source

Identifiers

PMID: 10631923

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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