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Article

Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.

The journal of gene medicine - 1 Aug 2020

Matis Thibaut, Michaud Vincent, Van-Gils Julien, Raclet Virginie, Plaisant Claudio, Fergelot Patricia, Lasseaux Eulalie, Arveiler Benoit, Trimouille Aurélien

Abstract excerpt

BACKGROUND: The development of whole-exome sequencing (WES) and whole-genome sequencing (WGS) for clinical purposes now allows the identification of multiple pathogenic variants in patients with a rare disease. This occurs even when a single causative gene was initially suspected. We report the case of an 8-year-old patient with global developmental delays and dysmorphic features, with a possibly pathogenic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32246869
DOI: 10.1002/jgm.3197

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