TY  - GEN
AU  - Shaheen,Ranad
AU  - Faqeih,Eissa
AU  - Ansari,Shinu
AU  - Alkuraya,Fowzan S
TI  - A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome
SN  - 1364-6753
PY  - 2014///0623
KW  - Brain
KW  - pathology
KW  - Female
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Mutation
KW  - N-Acetylglucosaminyltransferases
KW  - genetics
KW  - Walker-Warburg Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10048-013-0367-8
ER  -