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Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations

Wang, Z; Horemuzova, E; Iida, A; Guo, L; Liu, Y; Matsumoto, N; Nishimura, G; Nordgren, A; Miyake, N; Tham, E; Grigelioniene, G; Ikegawa, S

Grigelioniene, G (reprint author), Karolinska Univ Hosp, Karolinska Inst, Dept Clin Genet, S-17176 Stockholm, Sweden.; Grigelioniene, G (reprint author), Karolinska Univ Hosp, Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden.; Ikegawa, S (r

JOURNAL OF HUMAN GENETICS, 2017; 62 (4): 503

Abstract

Axial spondylometaphyseal dysplasia (axial SMD) is a unique form of SMD characterized by dysplasia of axial skeleton and retinal dystrophy. Recently, ......

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