Article
Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
International journal of dermatology - 1 Feb 2013
Mohanan Saritha, Chandrashekar Laxmisha, Semple Robert K, Thappa Devinder M, Parameswaran Narayanan, Negi Vir S, Ramassamy Sivaranjini
Abstract excerpt
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...
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