Wird geladen...
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis
Cohen syndrome (CS) is a rare autosomal recessive condition caused by mutations and/or large rearrangements in the VPS13B gene. CS clinical features, including developmental delay, the typical facial gestalt, chorioretinal dystrophy (CRD) and neutropenia, are well described. CS diagnosis is generall...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2013
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3722949/ https://ncbi.nlm.nih.gov/pubmed/23188044 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.251 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|