"Clinical characteristics and identification of a novel TGFB1 variant in three unrelated Chinese families with Camurati‐Engelmann disease"

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To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals. Click to show full abstract

To investigate the clinical characteristics and molecular diagnosis of Camurati‐Engelmann disease (CAEND) in Chinese individuals.

Keywords: characteristics identification; engelmann disease; camurati engelmann; clinical characteristics; identification novel

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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