Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient

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Authors: Stephanie Christoforou, Kyproula Christodoulou, Violetta Anastasiadou, Paola Nicolaides

Journal title: European Journal of Medical Genetics

Journal number: 63/3

Journal publisher: Elsevier BV

Published year: 2020

Published pages: 103765

DOI identifier: 10.1016/j.ejmg.2019.103765

ISSN: 1769-7212