Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Manuela Wiessner,Andreas Roos, Christopher J Munn,Ranjith Viswanathan,Tamieka Whyte,Dan Cox,Benedikt Schoser,Caroline Sewry,Helen Roper,Rahul Phadke,Chiara Marini Bettolo,Rita Barresi,Richard Charlton,Carsten G Bönnemann,Osório Abath Neto,Umbertina C Reed,Edmar Zanoteli,Cristiane Araújo Martins Moreno,Birgit Ertl-Wagner,Rolf Stucka,Christian De Goede, Tamiris Borges da Silva,Denisa Hathazi,Margherita Dell'Aica,René P Zahedi,Simone Thiele,Juliane Müller,Helen Kingston,Susanna Müller,Elizabeth Curtis,Maggie C Walter,Tim M Strom,Volker Straub,Kate Bushby,Francesco Muntoni,Laura E Swan,Hanns Lochmüller,Jan Senderek American journal of human genetics（2017）
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