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

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

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...

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Bibliographic Details
Main Authors: Lulu Yan, Juan Cao, Yuxin Zhang, Yingwen Liu, Jinghui Zou, Biying Lou, Danyan Zhuang, Haibo Li
Format: Article
Language:English
Published: BMC 2023-08-01
Series:BMC Medical Genomics
Subjects:
RLSDF
PKDCC gene
Skeletal dysplasia
Whole exome sequencing
Online Access:https://doi.org/10.1186/s12920-023-01631-7

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