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

• Main Authors: Fang Zhang (Author), Hongmei Guo (Author), Xinlong Zhou (Author), Zhengxi Deng (Author), Qiuhong Xu (Author), Qingming Wang (Author), Haiming Yuan (Author), Jianhua Luo (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...