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

Burcu Albuz,Gökhan Ozan Çetin,Bayram Özhan,Bilge Sarikepe,Özlem Anlaş, Menekşe Öztürk,Selcan Zeybek,Nuran Sabir,Gülseren Bağci,Cavidan Nur Semerci Gündüz

CLINICAL DYSMORPHOLOGY（2020）

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摘要

Albuz, Burcu; Çetin, Gökhan Ozan; Özhan, Bayram; Sarikepe, Bilge; Anlaş, Özlem; Öztürk, Menekşe; Zeybek, Selcan; Sabir, Nuran; Bağci, Gülseren; Semerci Gündüz, Cavidan Nur Author Information

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关键词

spondyloepiphyseal dysplasia,novel nonsense mutation,chst3,turkish patient

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