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A Novel and Mosaic WDR45 Nonsense Variant Causes Beta-Propeller Protein-Associated Neurodegeneration Identified Through Whole Exome Sequencing and X chromosome Heterozygosity Analysis

Akcakaya, Nihan Hande; Salman, Baris; Gormez, Zeliha; Arguden, Yelda Tarkan; Cirakoglu, Ayse; Cakmur, Raif; Colakoglu, Berril Donmez; Hacihanefioglu, Seniha; Ozbek, Ugur; Yapici, Zuhal; Iseri, Sibel Aylin Ugur (Humana Press Inc, 2019)

Beta-propeller protein-associated neurodegeneration (BPAN) is an X-linked rare dominant disorder of autophagy. The role of WDR45 has been implicated in BPAN almost exclusively in females possibly due to male lethality. ...