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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Detalles Bibliográficos
Publicado en: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.
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2016
Assuntos:
Case Report
Acceso en liña: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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