Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China. - Yan, Lulu; Cao, Juan; Zhang, Yuxin; Liu, Yingwen; Zou, Jinghui; Lou, Biying; Zhuang, Danyan; Li, Haibo (BMC Medical Genomics, 2023)