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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...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Galenos Publishing
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3386768/ https://ncbi.nlm.nih.gov/pubmed/22672868 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/Jcrpe.619 |
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