- Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence
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Kim D, Cho SY, Yeau SH, Park SW, Sohn YB, Kwon MJ, Kim JY, Ki CS, Jin DK
- KMID: 1372803
- J Korean Med Sci.
- 2012 May;27(5):565-568.
- doi: 10.3346/jkms.2012.27.5.565
Rabson-Mendenhall syndrome (RMS) is a rare syndrome manifested by extreme insulin resistance with hyperinsulinemia, acanthosis nigricans, tooth dysplasia and growth retardation. Our patient was first noted at the age of... -
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- A Study on Insulin action using fibroblast of leprechaunism patients
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Koh SW, Oh YJ, Chang MK, Bae YS, Jin DK
- KMID: 2331783
- J Korean Diabetes Assoc.
- 2006 Jan;30(1):39-46.
BACKGROUND: Leprechaunism, which is caused by insulin receptor defect, is clinically characterized by hyperinsulinemia, stunted growth, dysmorphic somatic abnormalities, lipodystrophy and early death around 2-3 years of age. METHODS: In this... -
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