Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers-Danlos Syndrome

• Main Authors: Xiaodan Yan (Author), Jianbo Shu (Author), Yanyan Nie (Author), Ying Zhang (Author), Ping Wang (Author), Weiwei Zhou (Author), Xiaoyu Cui (Author), Yang Liu (Author)
• Format: Book
• Published: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundKyphoscoliotic Ehlers-Danlos syndrome (kEDS; OMIM225400) is a rare autosomal recessive genetic disease caused by variants in the PLOD1 gene. This research was conducted to verify the disease-causing gene in a Chinese neonatal family with the EDS.MethodsWe recruited a Han Chinese neonate wi...