Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G &...

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Detalles Bibliográficos
Autores principales: Karimzadeh, Parvaneh, Rezakhani, Sepideh, Miryounesi, Mohammad, Alijanpour, Sahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347330/
https://www.ncbi.nlm.nih.gov/pubmed/35937029
http://dx.doi.org/10.1002/ccr3.6195

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347330/
https://www.ncbi.nlm.nih.gov/pubmed/35937029
http://dx.doi.org/10.1002/ccr3.6195

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