TY  - GEN
AU  - Rymen,Daisy
AU  - Winter,Julia
AU  - Van Hasselt,Peter M
AU  - Jaeken,Jaak
AU  - Kasapkara,Cigdem
AU  - Gokçay,Gulden
AU  - Haijes,Hanneke
AU  - Goyens,Philippe
AU  - Tokatli,Aysegul
AU  - Thiel,Christian
AU  - Bartsch,Oliver
AU  - Hecht,Jochen
AU  - Krawitz,Peter
AU  - Prinsen,Hubertus C M T
AU  - Mildenberger,Eva
AU  - Matthijs,Gert
AU  - Kornak,Uwe
TI  - Key features and clinical variability of COG6-CDG
SN  - 1096-7206
PY  - 2016///0829
KW  - Adaptor Proteins, Vesicular Transport
KW  - genetics
KW  - Adolescent
KW  - Child
KW  - Congenital Disorders of Glycosylation
KW  - complications
KW  - Female
KW  - Genetic Association Studies
KW  - Glycosylation
KW  - Golgi Apparatus
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Male
KW  - Microcephaly
KW  - etiology
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Phenotype
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ymgme.2015.07.003
ER  -