Loading...
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:
| Udgivet i: | Mol Syndromol |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
S. Karger AG
2018
|
| Fag: | |
| Online adgang: | 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: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|