Two Novel Insulin Receptor Gene Mutations in a Patient with Rabson-Mendenhall Syndrome: The First Korean Case Confirmed by Biochemical, and Molecular Evidence

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 8 months due to pigmentations on skin-folded areas. Initial laboratory tests sho...

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Autori principali: Kim, Doosoo, Cho, Sung Yoon, Yeau, Sung-Hee, Park, Sung Won, Sohn, Young Bae, Kwon, Min-Jung, Kim, Ji-Yeon, Ki, Chang-Seok, Jin, Dong-Kyu
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Korean Academy of Medical Sciences 2012
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3342552/
https://ncbi.nlm.nih.gov/pubmed/22563226
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2012.27.5.565
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