The American Journal of Human Genetics
Volume 100, Issue 3, 2 March 2017, Pages 537-545
ReportMutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
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Keywords
muscular dystrophy
cataracts
intellectual disability
INPP5K
SKIP
dystroglycanopathy
Marinesco-Sjögren syndrome
inositol phosphatase
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These authors contributed equally to this work
© 2017 American Society of Human Genetics.