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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Veröffentlicht in: | The journal of clinical endocrinology and metabolism 2009-11, Vol.94 (11), p.4162-4170 |
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Sprache: | eng |
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