Rabson Mendenhall Syndrome caused by a novel missense mutation

BACKGROUND: Rabson Mendenhall syndrome is a rare endocrine condition characterized by severe insulin resistance and hyperglycemia. It occurs due to mutations in the insulin receptor gene. Few mutations which are associated with Rabson Mendenhall syndrome have been identified and reported in the past...

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Bibliografiske detaljer
Udgivet i:Int J Pediatr Endocrinol
Main Authors: Sinnarajah, Krishnapradeep, Dayasiri, M. B. K. C., Dissanayake, N. D. W., Kudagammana, S. T., Jayaweera, A. H. H. M.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2016
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5114824/
https://ncbi.nlm.nih.gov/pubmed/27891155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13633-016-0039-1
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