A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2

Affiliations

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