Article
Prenatal diagnosis of a skeletal disorder characterized by rhizomelic shortening of limbs caused by compound heterozygous variants in the PKDCC gene: Case report and literature review.
Molecular genetics & genomic medicine - 1 Jun 2024
Wang Jing, Yu Huijun, Zhang Xiaoying, Zhou Xiuyun, Tan Ya, Li Zhi, Gu Ying, Lin Li
Abstract excerpt
BACKGROUND: The protein kinase domain containing cytoplasmic (PKDCC) gene (OMIM#618821) is associated with bone development. Biallelic variants in the PKDCC gene can cause rhizomelic limb shortening with dysmorphic features. CASE REPORT: A fetus was found to be rhizomelic limb shortening at 16 weeks of gestation and amniocentesis was performed at 19 weeks of gestation. Genomic DNA extracted from the amniotic...
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