Carregant...
A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload
Three related males presented with a newly recognized x-linked syndrome associated with neurodegeneration, cutaneous abnormalities, and systemic iron overload. Linkage studies demonstrated that they shared a haplotype on Xp21.3– Xp22.2 and exome sequencing was used to identify candidate variants. Of...
Guardat en:
| Publicat a: | Am J Med Genet A |
|---|---|
| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2013
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4349522/ https://ncbi.nlm.nih.gov/pubmed/24259288 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.36189 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|