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- Title
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
- Authors
Mohanan, Saritha; Chandrashekar, Laxmisha; Semple, Robert K; Thappa, Devinder M; Parameswaran, Narayanan; Negi, Vir S; Ramassamy, Sivaranjini
- 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.
- Publication
International journal of dermatology, 2013, Vol 52, Issue 2, p182
- ISSN
1365-4632
- Publication type
Journal Article
- DOI
10.1111/j.1365-4632.2012.05665.x