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

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...

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Veröffentlicht in:	The journal of gene medicine 2020-08, Vol.22 (8), p.e3197-n/a
Hauptverfasser:	Matis, Thibaut, Michaud, Vincent, Van‐Gils, Julien, Raclet, Virginie, Plaisant, Claudio, Fergelot, Patricia, Lasseaux, Eulalie, Arveiler, Benoit, Trimouille, Aurélien
Format:	Artikel
Sprache:	eng
Schlagworte:	Case reports direct sequencing gene expression Gene therapy Genomes Intellectual disabilities molecular genetics neurology Pax3 protein Phenotypes Rare diseases Whole genome sequencing
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