Prenatal diagnosis to identify compound heterozygous variants in PKDCC that causes rhizomelic limb shortening with dysmorphic features in a fetus from China

Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase d...

Source: BMC Medical Genomics - August 17, 2023 Category: Genetics & Stem Cells Authors: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang and Haibo Li Tags: Research Source Type: research