Article

Pycnodysostosis- A Rare Diagnosis Not to Miss

2022-04-25

Abstract excerpt

<title>Abstract</title> <p>Background: there are several diseases that results repeated bone fracture. One of them is Pycnodysostosis. Pycnodysostosis was first described in 1962; however, the defective gene responsible for the skeletal features of Pycnodysostosis was discovered in 1996. Although genetic study confirms the diagnosis it’s not essential one to reach the clinical diagnosis. Several clinical features...

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Literature Corpus work: 70f177bd-0272-5fe9-95fd-04ad5736ebf2
DOI: 10.21203/rs.3.rs-1587319/v1

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