Article
Skraban-Deardorff syndrome: Six new cases of WDR26-related disease and expansion of the clinical phenotype.
Clinical genetics - 1 May 2021
Cospain Auriane, Schaefer Elise, Faoucher Marie, Dubourg Christèle, Carré Wilfrid, Bizaoui Varoona, Assoumani Jessica, Van Maldergem Lionel, Piton Amélie, Gérard Bénédicte, Tran Mau-Them Frédéric, Bruel Ange-Line, Faivre Laurence, Demurger Florence, Pasquier Laurent, Odent Sylvie, Fradin Mélanie, Lavillaureix Alinoë
Abstract excerpt
Skraban-Deardorff syndrome (a disease related to variations in the WDR26 gene; OMIM #617616) was first described in a cohort of 15 individuals in 2017. The syndrome comprises intellectual deficiency, severe speech impairment, ataxic gait, seizures, mild hypotonia with feeding difficulties during infancy, and dysmorphic features. Here, we report on six novel heterozygous de novo pathogenic variants in WDR26 in six...
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