Final Exon Frameshift Biallelic <i>PTPN23</i> Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia

Final Exon Frameshift Biallelic <i>PTPN23</i> 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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Bibliographic Details
Main Authors: Reham Khalaf-Nazzal, James Fasham, Nishanka Ubeyratna, David J. Evans, Joseph S. Leslie, Thomas T. Warner, Fida’ Al-Hijawi, Shurouq Alshaer, Wisam Baker, Peter D. Turnpenny, Emma L. Baple, Andrew H. Crosby
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:Brain Sciences
Subjects:
HSP
hereditary spastic paraplegia
<i>PTPN23</i>
protein tyrosine phosphatase
ESCRT
Online Access:https://www.mdpi.com/2076-3425/11/5/614

Internet

https://www.mdpi.com/2076-3425/11/5/614

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