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Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia

Guo, Long; Elcioglu, Nursel H.; Mizumoto, Shuji; Wang, Zheng; Noyan, Bilge; Albayrak, Hatice M.; Ikegawa, Shiro (Nature Publishing Group, 2017)

Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and 420 distinct entities have been ...