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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
Christoforou, Stephanie, Christodoulou, Kyproula, Anastasiadou, Violetta, Nicolaides, PaolaJournal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2019.103765
Date:
September, 2019
File:
PDF, 543 KB
2019