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

• Main Authors: Muhammad Imran Naseer (Author), Peter Natesan Pushparaj (Author), Angham Abdulrahman Abdulkareem (Author), Osama Y. Muthaffar (Author)
• פורמט: ספר
• יצא לאור: Frontiers Media S.A., 2022-02-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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...