Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases

• Main Authors: Joon Yeon Won (Author), Dayeon Kim (Author), Seon Young Park (Author), Hye Ran Lee (Author), Jong-Seok Lim (Author), Jong Hoon Park (Author), Mi Hyun Song (Author), Hae Ryong Song (Author), Ok-Hwa Kim (Author), Yonghwan Kim (Author), Tae-Joon Cho (Author)
• Format: Book
• Published: BMC, 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background X-linked spondyloepiphyseal dysplasia tarda (SEDT-XL) is a skeletal disorder characterized by defective structures of vertebral bodies and/or of epiphyses of the long bones, resulting in moderately short stature and early joint degeneration. TRAPPC2 gene, which is important for c...