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Identification of biallelic <i>LRRK1</i> mutations in osteosclerotic metaphyseal dysplasia and evidence for locus heterogeneityAritoshi Iida, Shiro Ikegawa, Weirong Xing et al.|Journal of Medical Genetics|2016Cited by 49
Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 MutationsZheng Wang, Shiro Ikegawa, Aritoshi Iida et al.|PLoS ONE|2016Cited by 48
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutationsZheng Wang, Shiro Ikegawa, Eva Horemuzova et al.|Journal of Human Genetics|2017Cited by 38
Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasiaLong Guo, Shiro Ikegawa, Nursel Elçioğlu et al.|Journal of Human Genetics|2017Cited by 36