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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Academic Journal
Evesson, Frances J; Dziaduch, Gregory; Bryen, Samantha J; Moore, Francesca; Pittman, Sara; Devanapalli, Beena; Waddell, Leigh B; Ryan, Monique M; Menezes, Manoj P; Weihl, Conrad C; Tolun, Adviye Ayper; Zaidman, Craig; Young, Helen; Adès, Lesley C; Cooper, Sandra T
Human Molecular Genetics; Jun2023, Vol. 32 Issue 12, p2084-2092, 9p
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[AR] Evesson, Frances J
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