Shaheen, Ranad

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. [electronic resource] - Neurogenetics Nov 2013 - 243-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1364-6753

10.1007/s10048-013-0367-8 doi


Brain--pathology
Female
Humans
Infant, Newborn
Male
Mutation
N-Acetylglucosaminyltransferases--genetics
Walker-Warburg Syndrome--genetics