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Wiessner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Roper, H, Phadke, R, Marini Bettolo, C, Barresi, R, Charlton, R, Bönnemann, CG, Abath Neto, O, Reed, UC, Zanoteli, E, Araújo Martins Moreno, C, Ertl-Wagner, B, Stucka, R, De Goede, C, Borges da Silva, T, Hathazi, D, Dell’Aica, M, Zahedi, RP, Thiele, S, Müller, J, Kingston, H, Müller, S, Curtis, E, Walter, MC, Strom, TM, Straub, V, Bushby, K, Muntoni, F, Swan, LE, Lochmüller, H and Senderek, J (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). 523 - 536. ISSN 0002-9297