A carregar...
DeSanto-Shinawi Syndrome: First Case in South America
Pathogenic variants in WAC are uncommon causes of developmental delay and neurobehavioral phenotypes. The clinical features associated with WAC haploinsufficiency include recognizable dysmorphic facial features that were recently delineated as DeSanto-Shinawi syndrome (DESSH; OMIM 616708). Additiona...
Na minha lista:
| Publicado no: | Mol Syndromol |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2018
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6006642/ https://ncbi.nlm.nih.gov/pubmed/29928181 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000488815 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|