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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...
Enregistré dans:
| Publié dans: | Transl Pediatr |
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| Auteurs principaux: | , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
AME Publishing Company
2021
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7944177/ https://ncbi.nlm.nih.gov/pubmed/33708531 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-20-167 |
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