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Osborn, DPS, Pond, HL, Mazaheri, N, Desjardin, J, Munn, CJ, Muschref, K, Cauley, ES, Moroni, I, Pasanisi, MB, Sellars, EA et al (show 14 more authors)
(2017)
Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
American Journal of Human Genetics, 100 (3).
pp. 537-545.
Weissner, M, Roos, A, Munn, CJ, Viswanathan, R, Whyte, T, Cox, D, Schoser, B, Sewry, C, Rooper, H, Phadke, R et al (show 28 more authors)
(2017)
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
American Journal of Human Genetics, 100 (3).
pp. 523-536.