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2
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

3
Whole-Exome Sequencing Identifies Mutations of KIF22 in Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type

Min, Byung-Joo; Kim, Namshin; Chung, Taesu; Kim, Ok-Hwa; Nishimura, Gen; Chung, Chin Youb; Song, Hae Ryong; et al, AMERICAN JOURNAL OF HUMAN GENETICS, v.89, no.6, pp.760 - 766, 2011-12

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