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Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disordercharacterized by early-onset diabetes, spondyloepiphyseal dysplasia,tendency to skeletal fractures secondary to osteopenia, and growthretardation. Mutations in the eukaryotic translation initiation factor 2αkinase (EIF2AK3)gene ar...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Galenos Publishing
2012
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3386768/ https://www.ncbi.nlm.nih.gov/pubmed/22672868 http://dx.doi.org/10.4274/Jcrpe.619 |