Cargando...
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...
Gardado en:
| Publicado en: | Mol Med Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
D.A. Spandidos
2016
|
| Assuntos: | |
| Acceso en liña: | 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: |
Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|