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

• Những tác giả chính: Carolina Lopes (Tác giả), Fernando Silveira (Tác giả), Goreti Nadais (Tác giả), Miguel Leão (Tác giả)
• Định dạng: Sách
• Được phát hành: Annals of Musculoskeletal Medicine - Peertechz Publications, 2019-12-18.
• Những chủ đề: Case Study
• Truy cập trực tuyến: 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,...