A Rare Cause of Hyperinsulinemic Hypoglycemia: Kabuki Syndrome
Kabuki syndrome (KS) is a disease characterized by distinctive facial features, skeletal anomalies and delay in neuromotor development. KS 1 is an autosomal dominant condition caused by mutations in the KMT2D gene, whereas KS 2 is an X-linked disorder caused by mutations in the KDM6A gene. In the ma...
Guardado en:
| Autores principales: | , , , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Galenos Yayincilik
2021
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/027c57406003485e89453a93e2924fd3 |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|