Two novel EIF2AK3 mutations in a Chinese boy with Wolcott-Rallison syndrome
OBJECTIVE: Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by the association of permanent neonatal or early-infancy insulin-dependent diabetes, multiple epiphyseal dysplasia and growth retardation, and other variable multisystem clinical manifestations. Here we...
| Publié dans: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 49(2011), 4 vom: 31. Apr., Seite 301-5 |
|---|---|
| Auteur principal: | |
| Autres auteurs: | , , , , |
| Format: | Article |
| Langue: | Chinese |
| Publié: |
2011
|
| Accès à la collection: | Zhonghua er ke za zhi = Chinese journal of pediatrics |
| Sujets: | Case Reports Journal Article Research Support, Non-U.S. Gov't EIF2AK3 protein, human EC 2.7.11.1 eIF-2 Kinase |