Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

The hereditary spastic paraplegias (HSPs) are a large clinically heterogeneous group of genetic disorders classified as ‘pure’ when the cardinal feature of progressive lower limb spasticity and weakness occurs in isolation and ‘complex’ when associated with other clinical signs. Here, we identify a...

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Detalles Bibliográficos
Autores principales: Khalaf-Nazzal, Reham, Fasham, James, Ubeyratna, Nishanka, Evans, David J., Leslie, Joseph S., Warner, Thomas T., Al-Hijawi, Fida’, Alshaer, Shurouq, Baker, Wisam, Turnpenny, Peter D., Baple, Emma L., Crosby, Andrew H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151426/
https://www.ncbi.nlm.nih.gov/pubmed/34064836
http://dx.doi.org/10.3390/brainsci11050614

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151426/
https://www.ncbi.nlm.nih.gov/pubmed/34064836
http://dx.doi.org/10.3390/brainsci11050614

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