Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction

• Asıl Yazarlar: Carolina Lopes (Yazar), Fernando Silveira (Yazar), Goreti Nadais (Yazar), Miguel Leão (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Annals of Musculoskeletal Medicine - Peertechz Publications, 2019-12-18.
• Konular: Case Study
• Online Erişim: Connect to this object online.

<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,...