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

• Main Authors: Lulu Yan (Author), Juan Cao (Author), Yuxin Zhang (Author), Yingwen Liu (Author), Jinghui Zou (Author), Biying Lou (Author), Danyan Zhuang (Author), Haibo Li (Author)
• פורמט: ספר
• יצא לאור: BMC, 2023-08-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

Abstract Background 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 domain containing, cytoplasmic(PKDCC)gene variants. In this study, we de...