Severe Wolcott-Rallison syndrome due to a nonsense mutation in the first exon EIF2AK3
Wolcott-Rallison syndrome is a rare autosomal recessive disease characterized by neonatal diabetes mellitus in combination with osteodysplasia and liver failure. This disease is the most common cause of neonatal diabetes mellitus in consanguineous families. Wolcott-Rallison syndrome is associated wi...
Guardado en:
| Autores principales: | , , , |
|---|---|
| Formato: | article |
| Lenguaje: | EN RU |
| Publicado: |
Endocrinology Research Centre
2018
|
| Materias: | |
| Acceso en línea: | https://doaj.org/article/1c81293931284278bac630e6e4341f1e |
| Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Sea el primero en dejar un comentario!