A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3

Affiliations

• ¹ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
• ² Department of Orthopedic Surgery, Shiga Medical Center for Children, Shiga, Japan.
• ³ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
• ⁴ Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
• ⁵ Department of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.