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Genetic conundrum of Radioulnar synostosis

Review Paper | April 1, 2019

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Muhammad Azhar

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Int. J. Biosci.14( 4), 428-441, April 2019

DOI: http://dx.doi.org/10.12692/ijb/14.4.428-441


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Radioulnar synostosis is a rare congenital anomaly of skeleton that is inherited in autosomal dominant pattern. Although, it has mostly been described in several syndromic conditions, but occurs in isolated form as well. Many recent studies have associated different genes with syndromic RUS however; no specific genetic cause has been linked to isolated condition thus far. Since 1793 more than 400 cases have been described but the genetics of the phenotype have been studied in syndromic form. We review recent development in molecular genetics of RUS that may provide clues to find possible inheritance pattern of the phenotype and to know which genetic pathway is responsible for the disease.


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Genetic conundrum of Radioulnar synostosis

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