A carregar...
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
Smith-Magenis syndrome (SMS) is a complex syndrome involving intellectual disabilities, sleep disturbance, behavioural problems, and a variety of craniofacial, skeletal, and visceral anomalies. While the majority of SMS cases harbor an ~3.5 Mb common deletion on 17p11.2 that encompasses the retinoic...
Na minha lista:
| Main Authors: | , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2010
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2964533/ https://ncbi.nlm.nih.gov/pubmed/20932317 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-11-142 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|