Wird geladen...
A novel KMT2D mutation resulting in Kabuki syndrome: A case report
Kabuki syndrome (KS) is a rare genetic syndrome characterized by multiple congenital anomalies and varying degrees of mental retardation. Patients with KS often present with facial, skeletal, visceral and dermatoglyphic abnormalities, cardiac anomalies and immunological defects. Mutation of the lysi...
Gespeichert in:
| Veröffentlicht in: | Mol Med Rep |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
D.A. Spandidos
2016
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5042757/ https://ncbi.nlm.nih.gov/pubmed/27573763 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3892/mmr.2016.5683 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|