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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
AME Publishing Company
2021
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| 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 |