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http://dx.doi.org/10.1111/ijd.14431DOI Listing

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Article Synopsis
  • Ossifying fibromyxoid tumor (OFMT) is a rare soft tissue tumor often found in subcutaneous tissues, characterized by bland ovoid cells and metaplastic bone.
  • The tumors typically pose diagnostic challenges when they present with unusual characteristics, necessitating the detection of specific gene fusions for accurate diagnosis.
  • This study discusses six cases of OFMT with atypical features and emphasizes the importance of molecular testing in confirming diagnoses, highlighting a case with a novel gene fusion (EPC1::SUZ12).
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 Osteogenesis imperfecta (OI) is the most common monogenic inherited skeletal dysplasia disorder. Mutations in the gene cause ∼85 to 90% of OI. Studies of cases have demonstrated that missense mutations are the primary cause of OI, with poor prognosis.

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