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PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome

BACKGROUND: Zellweger syndrome (ZS) is commonly manifested as facial deformities, hypotonia, and liver dysfunction. However, ZS caused by PEX26 gene mutation shows a broad and dispersed clinical pattern. In this study, the PEX26 gene in ZS was analyzed to enrich its clinical characteristics. Meanwhi...

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Detalles Bibliográficos
Autores principales: He, Yue, Lin, Sam Bill, Li, Wen-Xuan, Yang, Lin, Zhang, Rong, Chen, Chao, Yuan, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349955/
https://www.ncbi.nlm.nih.gov/pubmed/34430430
http://dx.doi.org/10.21037/tp-21-103