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Article

Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Sept 2010

Lamônica Dionísia A C, Maximino Luciana P, Feniman Mariza Ribeiro, Silva Greyce K, Zanchetta Sthella, Abramides Dagma V M, Passos-Bueno Maria Rita, Rocha Kátia, Richieri-Costa Antonio

Abstract excerpt

OBJECTIVE: To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome. DESIGN: Clinical evaluation was performed by a multidisciplinary te...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20184424
DOI: 10.1597/08-251.1

Genes

TWIST1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20184424-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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