A carregar...
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome
PEHO syndrome (OMIM no. 260565) is characterized by myoclonic jerking and infantile spasms, profound psychomotor retardation with the absence of motor milestones and speech, absence or early loss of visual fixation with atrophy of optic discs by 2 years of age and progressive brain atrophy on neuroi...
Na minha lista:
| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4867456/ https://ncbi.nlm.nih.gov/pubmed/26486474 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.217 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|