載入...

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...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Mıhçı, Ercan, Türkkahraman, Doğa, Ellard, Sian, Akçurin, Sema, Bircan, İffet
格式: Artigo
語言:Inglês
出版: Galenos Publishing 2012
主題:
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!