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,...
Enregistré dans:
| Auteurs principaux: | , , , |
|---|---|
| Format: | Livre |
| Publié: |
Annals of Musculoskeletal Medicine - Peertechz Publications,
2019-12-18.
|
| Sujets: | |
| Accès en ligne: | Connect to this object online. |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|