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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger, Pauline E, Kortüm, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, René, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, EmanJournal:
Brain
DOI:
10.1093/brain/awaa204
Date:
August, 2020
File:
PDF, 1.08 MB
2020