Wiessner, M;
Roos, A;
Munn, CJ;
Viswanathan, R;
Whyte, T;
Cox, D;
Schoser, B;
... Senderek, J; + view all
(2017)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
The American Journal of Human Genetics
, 100
(3)
pp. 523-536.
10.1016/j.ajhg.2017.01.024.