Associated Papers
Final Exon Frameshift Biallelic PTPN23 Variants Are Associated with Microcephalic Complex Hereditary Spastic Paraplegia.
Khalaf-Nazzal R et al.
Brain Sciences, 2021
34064836 (PubMed )
Supplement: brainsci-11-00614-s001.zip › brainsci-1200361-supplementary › brainsci-1200361-supplementary.pdf
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities.
Bend R et al.
European Journal of Human Genetics : Ejhg, 2020
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs.
Smigiel R et al.
European Journal of Human Genetics : Ejhg, 2018
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