Home > D. Systemic pathology > Genetic and developmental anomalies > lethal contractural syndrome type 3
lethal contractural syndrome type 3
MIM.611369 19p13.3
Wednesday 17 October 2007
Etiology
germline mutation in PIP5K1C (MIM.606102) encoding PIPKI gamma of the phophatidylinsitol pathway in lethal contractural syndrome type 3 (LCCS3)
See also
pathology of the phophatidylinsitol pathway
References
Narkis G, Ofir R, Landau D, Manor E, Volokita M, Hershkowitz R, Elbedour K, Birk OS. Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway. Am J Hum Genet. 2007 Sep;81(3):530-9. PMID: 17701898