A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review

In this study, we report a male newborn with severe Zellweger spectrum disorder (ZSDs) presenting asphyxia, hypotonia, poor feeding, and dysmorphic facial features. Despite intensive supportive treatment, the boy’s condition deteriorated progressively. The patient’s diagnosis was made by delayed res...

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Detalles Bibliográficos
Autores principales: Lu, Pei, Ma, Li, Sun, Jingjing, Gong, Xiaohui, Cai, Cheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7944177/
https://www.ncbi.nlm.nih.gov/pubmed/33708531
http://dx.doi.org/10.21037/tp-20-167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7944177/
https://www.ncbi.nlm.nih.gov/pubmed/33708531
http://dx.doi.org/10.21037/tp-20-167

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