Article
Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.
The Journal of clinical endocrinology and metabolism - 1 Nov 2009
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
Abstract excerpt
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 after the full clinical picture develops. We aimed to identify patients with WRS before any other abnormalities apart...
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