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Article

TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.

European journal of medical genetics - 1 Jan 2000

Schluth-Bolard Caroline, Till Marianne, Labalme Audrey, Rey Catherine, Banquart Emmanuelle, Fautrelle Anne, Martin-Denavit Tanguy, Le Lorc'h Marc, Romana Serge Pierrick, Lazar Vladimir, Edery Patrick, Sanlaville Damien

Abstract excerpt

Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 microdeletions involving the entire gene have also bee...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18255367
DOI: 10.1016/j.ejmg.2007.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18255367-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.PMID 18255367Read ↗

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