A carregar...
De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families
BACKGROUND: Beta‐propeller protein‐associated neurodegeneration (BPAN) is a rare, X‐linked dominant neurodegenerative disease mainly characterized by developmental delay, intellectual disability, epilepsy in childhood and dystonia, parkinsonism, dementia in adulthood. BPAN is caused by variants in W...
Na minha lista:
| Publicado no: | Mol Genet Genomic Med |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7667327/ https://ncbi.nlm.nih.gov/pubmed/33037762 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1499 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|