A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1

Affiliations

• ¹ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
• ² Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
• ³ Department of Orthopedics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
• ⁴ Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.