Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

Context and Objective: Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed aft...

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Autori principali: Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, Balafrej, Amina, Deeb, Asma, Buchanan, Charles R., Jefferson, Ian G., Mutair, Angham, Hattersley, Andrew T., Ellard, Sian
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Endocrine Society 2009
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2775655/
https://ncbi.nlm.nih.gov/pubmed/19837917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-1137
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