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Genetic conundrum of Radioulnar synostosis

By: Muhammad Azhar

Key Words: Radioulnar synostosis, Syndromic, Phenotype, Molecular genetics.

Int. J. Biosci. 14(4), 430-443, April 2019.

DOI: http://dx.doi.org/10.12692/ijb/14.4.430-443

Certification: ijb 2019 0011 [Generate Certificate]

Abstract

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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Muhammad Azhar.
Genetic conundrum of Radioulnar synostosis.
Int. J. Biosci. 14(4), 430-443, April 2019.
https://innspub.net/ijb/genetic-conundrum-radioulnar-synostosis/
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