Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Slavotinek, Anne ; Misceo, Doriana ; Htun, Stephanie ; Mathisen, Linda ; Frengen, Eirik ; Foreman, Michelle ; Hurtig, Jennifer E ; Enyenihi, Liz ; Sterrett, Maria C ; Leung, Sara W ; Schneidman-Duhovny, Dina ; Estrada-Veras, Juvianee ; Duncan, Jacque L ; Haaxma, Charlotte A ; Kamsteeg, Erik-Jan ; Xia, Vivian ; Beleford, Daniah ; Si, Yue ; Douglas, Ganka ; Treidene, Hans Einar ; van Hoof, Ambro ; Fasken, Milo B ; Corbett, Anita H

Human molecular genetics, 2020-08, Vol.29 (13), p.2218-2239 [Periódico revisado por pares]

England: Oxford University Press

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