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A novel nonsense mutation in CHST3 in a Turkish patient with spondyloepiphyseal dysplasia, Omani type.
Clinical dysmorphology Pub Date : 2020-01-01 , DOI: 10.1097/mcd.0000000000000295 Burcu Albuz 1 , Gökhan Ozan Çetin 1 , Bayram Özhan 2 , Bilge Sarikepe 1 , Özlem Anlaş 1 , Menekşe Öztürk 1 , Selcan Zeybek 1 , Nuran Sabir 3 , Gülseren Bağci 1 , Cavidan Nur Semerci Gündüz 1
中文翻译：
一名患有阿曼型脊柱骨骺发育不良的土耳其患者的 CHST3 中出现新的无义突变。
更新日期：2019-11-01
Clinical dysmorphology Pub Date : 2020-01-01 , DOI: 10.1097/mcd.0000000000000295 Burcu Albuz 1 , Gökhan Ozan Çetin 1 , Bayram Özhan 2 , Bilge Sarikepe 1 , Özlem Anlaş 1 , Menekşe Öztürk 1 , Selcan Zeybek 1 , Nuran Sabir 3 , Gülseren Bağci 1 , Cavidan Nur Semerci Gündüz 1
Affiliation
中文翻译：
一名患有阿曼型脊柱骨骺发育不良的土耳其患者的 CHST3 中出现新的无义突变。
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