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The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1 期刊论文
发表期刊: MOLECULAR GENETICS & GENOMIC MEDICINE. 出版年: 2019, 卷号: 7, 期号: 8
作者:  Cayami, Ferdy K.;  Maugeri, Alessandra;  Treurniet, Sanne;  Setijowati, Eva D.;  Teunissen, Bernd P.;  Eekhoff, Elisabeth M. W.;  Pals, Gerard;  Faradz, Sultana M.;  Micha, Dimitra
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hereditary  osteogenesis imperfecta  osteoporosis  skeletal dysplasia