A carregar...
Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family
Noonan syndrome (NS) is a genetic condition characterized by congenital heart defects, short stature and characteristic facial features. We here present the case of a girl with moderate learning disabilities, delayed language development, craniofacial features and skin anomalies reminiscent of NS. A...
Na minha lista:
| Publicado no: | Eur J Hum Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2015
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4613488/ https://ncbi.nlm.nih.gov/pubmed/25712082 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.20 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|