Article

Clinical Characteristics And Identification of Novel TGF-β1 Mutation In Three Unrelated Chinese Families With Progressive Diaphyseal Dysplasia

2021-05-27

Abstract excerpt

<h4>Background: </h4> To investigate the clinical characteristics and molecular diagnosis of progressive diaphyseal dysplasia (PDD) in three unrelated Chinese families. <h4>Methods: </h4> The present study recruited six patients aged 14 to 45 from three unrelated families with PDD, including five females and one male. Clinical manifestations, biochemical tests, radiographic examinations were analyzed and the TGF-β...

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Literature Corpus work: ee773f8c-475a-56a2-b574-f0371769a3b0
DOI: 10.21203/rs.3.rs-496094/v1

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