Associated Papers
Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.
Zhang F et al.
Bmc Pediatrics, 2024
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M et al.
American Journal of Human Genetics, 2023
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
31839005 (PubMed )
Supplement: 13584_2019_345_MOESM1_ESM.xlsx › Negev_Bedouins
The expanding spectrum of neurological disorders of phosphoinositide metabolism.
Volpatti JR et al.
Disease Models & Mechanisms, 2019
Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain.
Volpicelli-Daley LA et al.
The Journal of Biological Chemistry, 2010
Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.
Narkis G et al.
American Journal of Human Genetics, 2007
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