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

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,...

Source: BMC Pediatrics - March 15, 2024 Category: Pediatrics Authors: Fang Zhang, Hongmei Guo, Xinlong Zhou, Zhengxi Deng, Qiuhong Xu, Qingming Wang, Haiming Yuan and Jianhua Luo Tags: Research Source Type: research