A carregar...
GNAO1 encephalopathy: further delineation of a severe neurodevelopmental syndrome affecting females
BACKGROUND: De novo heterozygous mutations in the GNAO1 gene, encoding the Gα o subunit of G-proteins, are the cause of a severe neurodevelopmental disorder, featuring early infantile seizures, profound cognitive dysfunction and, occasionally, movement disorder (early infantile epileptic encephalopa...
Na minha lista:
| Publicado no: | Orphanet J Rare Dis |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4830060/ https://ncbi.nlm.nih.gov/pubmed/27072799 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0416-0 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|