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Short Case Reports

A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type

Albuz, Burcua; Çetin, Gökhan Ozana; Özhan, Bayramb; Sarikepe, Bilgea; Anlaş, Özlema; Öztürk, Menekşea; Zeybek, Selcana; Sabir, Nuranc; Bağci, Gülserena; Semerci Gündüz, Cavidan Nura

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doi: 10.1097/MCD.0000000000000295
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