Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction
<p>Background: Spastic Paraplegia 26 (SPG26) is a complex type of spastic paraplegia caused by B4GALNT1 gene pathogenic variants, and is characterized by childhood/adolescence onset of progressive spastic paraplegia associated with mild to moderate cognitive impairment and developmental delay,...
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| Formaat: | Boek |
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Annals of Musculoskeletal Medicine - Peertechz Publications,
2019-12-18.
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A1234.567 |
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