TY  - GEN
AU  - Tuysuz,Beyhan
AU  - Pehlivan,Davut
AU  - Özkök,Ahmet
AU  - Jhangiani,Shalini
AU  - Yalcinkaya,Cengiz
AU  - Zeybek,Çiğdem Aktuğlu
AU  - Muzny,Donna Marie
AU  - Lupski,James R
AU  - Gibbs,Richard
AU  - Jaeken,Jaak
TI  - Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation
SN  - 2192-8304
PY  - 2016///0512
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1007/8904_2015_478
ER  -