Estimation of PEX1-mediated Zellweger spectrum disorder births and population prevalence by population genetics modeling
Purpose: Zellweger Spectrum Disorder (ZSD) is a rare syndromic disorder characterized by impaired peroxisome assembly and function. Many cases are due to pathogenic variants in the PEX1 gene and are inherited in an autosomal recessive manner. As with many rare diseases, understanding the disease bur...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2025-01-01
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| coleção: | Genetics in Medicine Open |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2949774425014700 |
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