Document Detail


Rabson-Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation.
MedLine Citation:
PMID:  23347304     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Saritha Mohanan; Laxmisha Chandrashekar; Robert K Semple; Devinder M Thappa; Narayanan Parameswaran; Vir S Negi; Sivaranjini Ramassamy
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Publication Detail:
Type:  JOURNAL ARTICLE    
Journal Detail:
Title:  International journal of dermatology     Volume:  52     ISSN:  1365-4632     ISO Abbreviation:  Int. J. Dermatol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-1-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0243704     Medline TA:  Int J Dermatol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  182-185     Citation Subset:  -    
Copyright Information:
© 2013 The International Society of Dermatology.
Affiliation:
Department of Skin and Sexually Transmitted Diseases, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India Department of Clinical Immunology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
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