Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3

Abstract Background Biallelic pathogenic variants in PIP5K1C (MIM #606,102) lead to lethal congenital contractural syndrome 3 (LCCS3, MIM #611,369), a rare autosomal recessive genetic disorder characterized by small gestational age, severe multiple joint contractures and muscle atrophy, early death...

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Bibliographic Details
Main Authors: Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan, Jianhua Luo
Format: Article
Language:English
Published: BMC 2024-03-01
Series:BMC Pediatrics
Subjects:
PIP5K1C
Lethal congenital contractural syndrome 3
Lateral ventricles
Online Access:https://doi.org/10.1186/s12887-024-04674-6

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