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Article

Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.

European journal of human genetics : EJHG - 1 May 2006

Robertson Stephen P, Thompson Sarah, Morgan Timothy, Holder-Espinasse Muriel, Martinot-Duquenoy Véronique, Wilkie Andrew O M, Manouvrier-Hanu Sylvie

Abstract excerpt

The otopalatodigital syndrome (OPD) spectrum disorders are a heterogeneous group of skeletal dysplasias caused by mutations in the X-linked gene, FLNA. All OPD spectrum disorders (otopalatodigital syndromes types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome) exhibit significant interfamilial variability in their expressivity, especially in female subjects. Factors contributing to this may...

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Source

Identifiers

PMID: 16538226
DOI: 10.1038/sj.ejhg.5201586

Genes

FLNA

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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