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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Main Authors: Carolina Lopes (Author), Fernando Silveira (Author), Goreti Nadais (Author), Miguel Leão (Author)
Format: Book
Published: Annals of Musculoskeletal Medicine - Peertechz Publications, 2019-12-18.
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3rd Floor Main Library

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Call Number: A1234.567
Copy 1 Available