Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta

Intrauterine fractures are a rare clinical finding caused by abnormal early-life osteogenesis. In this case report, we reported a male infant with twenty-three intrauterine/fetal fractures resembling osteogenesis imperfecta and tested negative for <i>COL1A1</i> and <i>COL1A2</i&...

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Bibliographic Details
Main Authors: Michael F. Holick (Author), Arash Shirvani (Author), Nipith Charoenngam (Author)
Format: Book
Published: MDPI AG, 2021-06-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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