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Pediatric Education and Research 1(1):p 33-41, January - March 2013. | DOI:
Case Report
Marfan’s Syndrome
Sunil Mhaske , Sunil Mhaske , Ramesh B Kothari , Sandeep Deokate , Ram Sethi , Pavan Suryawanshi , Nishad Patil , Rahul Maski , Nivrutti Mundhe , Subhash Yadav Bhosale
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Pediatric Education and Research 1(1):p 33-41, January - March 2013. | DOI:
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Abstract
Marfan’s syndrome is a genetic disorder of the connective tissue. People with Marfan’s tend to be unusually tall, with long limbs and long, thin fingers. The syndrome is inherited as a autosomal dominant trait, carried by the gene FBN1, which encodes the connective protein fibrillin-1.
Key words: Marfan’s syndrome; Connective tissue disorder; FBN1; Fibrillin-1.
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