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Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

✍ Scribed by Charles Shaw-Smith; Sarah E Flanagan; Ann-Marie Patch; Juergen Grulich-Henn; Abdelhadi M Habeb; Khalid Hussain; Renata Pomahacova; Krystyna Matyka; Mohamed Abdullah; Andrew T Hattersley; Sian Ellard


Book ID
115100482
Publisher
John Wiley and Sons
Year
2012
Tongue
English
Weight
491 KB
Volume
13
Category
Article
ISSN
1399-543X

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Thiamine responsive megaloblastic anemia (TRMA) is an autosomal recessive disorder with a triad of symptoms: megaloblastic anemia, deafness, and non-type 1 diabetes mellitus. Occasionally, cardiac abnormalities and abnormalities of the optic nerve and retina occur as well. Patients with TRMA often r