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Zellweger’s Syndrome With PEX6 Gene Mutation in Mixteco Neonates Due to Possible Founder Effect
Zellweger spectrum disorder (ZSD) is a group of autosomal recessive peroxisomal disorders caused by PEX gene mutations that commonly present with symptoms of severe hypotonia, epileptic seizures, failure to thrive, hepatomegaly, craniofacial dysmorphisms, and sensorineural hearing loss. This article...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10573658/ https://www.ncbi.nlm.nih.gov/pubmed/37842507 http://dx.doi.org/10.7759/cureus.45162 |