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Amedeo Smart
Independent Medical Education
Colman M, Vroman R, Dhooge T, Malfait Z, et al. Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms. Hum Mutat 2022;43:1994-2009.PMID: 36054293
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