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BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia Cho, Sung Yoon; Bae, Jun-Seok; Kim, Nayoung K. D.; Forzano, Francesca; Girisha, Katta Mohan; Baldo, Chiara; Faravelli, Francesca; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.98, no.6, pp.1243 - 1248, 2016-06 |
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia Chang, Hae Ryung; Cho, Sung Yoon; Lee, Jae Hoon; Lee, Eunkyung; Seo, Jieun; Lee, Hye Ran; Cavalcanti, Denise P.; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.104, no.3, pp.439 - 453, 2019-03 |
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