Rabson–Mendenhall syndrome with recurrent cerebral infarcts caused by a novel INSR mutation
S Mohanan, L Chandrashekar… - International Journal …, 2013 - Wiley Online Library
International Journal of Dermatology, 2013•Wiley Online Library
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.
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.
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.
Wiley Online Library以上显示的是最相近的搜索结果。 查看全部搜索结果