Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment

Am J Hum Genet. 2017 Feb 8. pii: S0002-9297(17)30024-1.DOI:10.1016/j.ajhg.2017.01.024 [Epub ahead of print]

Kingston H, et al

https://www.ncbi.nlm.nih.gov/pubmed/28190456

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