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

BACKGROUND: Kyphoscoliotic 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. METHODS: We recruited a Han Chinese neona...

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Detalles Bibliográficos
Autores principales: Yan, Xiaodan, Shu, Jianbo, Nie, Yanyan, Zhang, Ying, Wang, Ping, Zhou, Weiwei, Cui, Xiaoyu, Liu, Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8891444/
https://www.ncbi.nlm.nih.gov/pubmed/35252061
http://dx.doi.org/10.3389/fped.2022.813758

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