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The Renal Cysts and Diabetes (RCAD) Syndrome in a Child with Deletion of the Hepatocyte Nuclear Factor-1β Gene

✍ Scribed by Varun Aggarwal; Sriram Krishnamurthy; Anju Seth; Coralie Bingham; Sian Ellard; Sharmila B. Mukherjee; Satinder Aneja


Book ID
107598915
Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
165 KB
Volume
77
Category
Article
ISSN
0019-5456

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One form of maturity-onset diabetes of the young, Type 3 (MODY3), results from mutations in the gene coding for hepatocyte nuclear factor-1␣ (HNF-1␣), a transcription factor first described in the liver. MODY3 is characterized by a defective glucosestimulated insulin secretion. Earlier observations