Loading...
Severe Neurological Phenotype in a Girl with Xp22.31 Triplication
The Xp22.31 duplication is a copy number variant which is challenging to categorize as pathogenic or benign. There is an increasing number of patients with the duplication and a neurobehavioral phenotype, but the duplication is almost always inherited from a parent, who in some cases is phenotypical...
Na minha lista:
| Udgivet i: | Mol Syndromol |
|---|---|
| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
S. Karger AG
2017
|
| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5498946/ https://ncbi.nlm.nih.gov/pubmed/28690489 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000475795 |
| Tags: |
Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!
|