Related to INPP5K
1 - 3 of 3 results found for INPP5K.
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Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping...
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Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular...
Phosphoinositides are small phospholipids that control diverse cellular downstream signaling events. Their spatial and temporal availability is tightly regulated by a set of specific lipid kinases and phosphatases. Congenital muscular dystrophies
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Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1
© 2020, The Author(s). Pontocerebellar hypoplasia (PCH) describes a group of rare heterogeneous neurodegenerative diseases with prenatal onset. Here we describe eight children with PCH from four unrelated families harboring the homozygous MINPP1 (NM
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