A carregar...
Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3.
Rubinstein-Taybi syndrome (RTS) is characterized by typical facies, short stature, mental retardation, broad thumbs and broad great toes. The syndrome is at least in part caused by microdeletions at chromosome 16p13.3 or by mutations in the gene for the CREB binding protein (CBP), which is located a...
Na minha lista:
| Main Authors: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Medical Association
2006
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2569755/ https://ncbi.nlm.nih.gov/pubmed/17052063 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|