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Int J Dermatol. 2013 Feb;52(2):182-5. doi: 10.1111/j.1365-4632.2012.05665.x.

Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.

Author information

  • 1Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

Abstract

Rabson-Mendenhall syndrome (RMS) is an autosomal recessive disorder characterized by extreme insulin resistance and certain characteristic phenotypic features. The primary defect lies in the insulin receptor and involves biallelic mutations that lead to a loss of function through various postulated defects. We present a 9-year-old female patient with RMS complicated by multiple cerebral infarcts, in whom genetic analysis revealed a novel insulin receptor mutation.

© 2013 The International Society of Dermatology.

PMID:
23347304
[PubMed - indexed for MEDLINE]
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