Article
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review.
American journal of medical genetics. Part A - 1 Jun 2021
Pavinato Lisa, Trajkova Slavica, Grosso Enrico, Giorgio Elisa, Bruselles Alessandro, Radio Francesca Clementina, Pippucci Tommaso, Dimartino Paola, Tartaglia Marco, Petlichkovski Aleksandar, De Rubeis Silvia, Buxbaum Joseph, Ferrero Giovanni Battista, Keller Roberto, Brusco Alfredo
Abstract excerpt
De novo variants in the WDR26 gene leading to haploinsufficiency have recently been associated with Skraban-Deardorff syndrome. This condition is an ultra-rare autosomal dominant neurodevelopmental disorder characterized by a broad range of clinical signs, including intellectual disability (ID), developmental delay (DD), seizures, abnormal facial features, feeding difficulties, and minor skeletal anomalies....
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