Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

Biotinidase deficiency is an autosomal recessive, multiple carboxylase deficiency usually associated with seizures, eczema, hypotonia, visual disturbances, hearing loss, and developmental delays. Only a handful of cases of biotinidase deficiency that had clinical features of neuromyelitis optica spe...

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Detalles Bibliográficos
Autores principales: Naseer, Muhammad Imran, Pushparaj, Peter Natesan, Abdulkareem, Angham Abdulrahman, Muthaffar, Osama Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900663/
https://www.ncbi.nlm.nih.gov/pubmed/35265569
http://dx.doi.org/10.3389/fped.2021.829251

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8900663/
https://www.ncbi.nlm.nih.gov/pubmed/35265569
http://dx.doi.org/10.3389/fped.2021.829251

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