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

• Hoofdauteurs: Xiaodan Yan (Auteur), Jianbo Shu (Auteur), Yanyan Nie (Auteur), Ying Zhang (Auteur), Ping Wang (Auteur), Weiwei Zhou (Auteur), Xiaoyu Cui (Auteur), Yang Liu (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...