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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Detalles Bibliográficos
Autores principales: Mıhçı, Ercan, Türkkahraman, Doğa, Ellard, Sian, Akçurin, Sema, Bircan, İffet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2012
Materias:
Case Reports
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

Internet

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

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