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...

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Detalles Bibliográficos
Autores principales: Slaton, Daniel, Chang, Ashley, Ahluwalia, Tamanna, Alfaro, Sophie, Javed, Britani, Greer, Rocky
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Pediatrics
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

Internet

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

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