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Division of Medical Genetics, Center for Lysosomal Storage Diseases, Departments of Clinical Laboratory Medicine, Radiology, Molecular Endocrinology, National Center for Child Health and Development, Tokyo, Center of Intractable Diseases, Saitama Medical University Hospital, Saitama and Department of Pediatrics, Sungkyunkwan University School of Medicine, Samsung Medical Center, Seoul, Republic of Korea Correspondence to Yasuyuki Fukuhara, MD, PhD, Division of Medical Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan Tel: + 81 334 160 181; fax: + 81 334 162 222; e-mail: fukuhara-ys@ncchd.go.jp

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported