%0 Journal Article
%T Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness
%A Slavotinek,, Anne
%A Misceo,, Doriana
%A Htun,, Stephanie
%A Mathisen,, Linda
%A Frengen,, Eirik
%A Foreman,, Michelle
%A Hurtig, Jennifer, E
%A Enyenihi,, Liz
%A Sterrett, Maria, C
%A Leung, Sara, W
%A Schneidman-Duhovny,, Dina
%A Estrada-Veras,, Juvianee
%A Duncan, Jacque, L
%A Haaxma, Charlotte, A
%A Kamsteeg,, Erik-Jan
%A Xia,, Vivian
%A Beleford,, Daniah
%A Si,, Yue
%A Douglas,, Ganka
%A Treidene, Hans, Einar
%A , van HoofAmbro
%A Fasken, Milo, B
%A Corbett, Anita, H
%J Human Molecular Genetics
%V 29
%N 13
%P 2218-2239
%@ 0964-6906
%D 2020-08-03
%I Oxford University Press
%~ DeepDyve