TY - JOUR AU - Won, Joon Yeon AU - Kim, Dayeon AU - Park, Seon Young AU - Lee, Hye Ran AU - Lim, Jong-Seok AU - Park, Jong Hoon AU - Song, Mi Hyun AU - Song, Hae Ryong AU - Kim, Ok-Hwa AU - Kim, Yonghwan AU - Cho, Tae-Joon PY - 2019 DA - 2019/05/03 TI - Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases JO - BMC Medical Genetics SP - 70 VL - 20 IS - 1 AB - 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 collagen secretion, has been reported as causative for SEDT-XL. SN - 1471-2350 UR - https://doi.org/10.1186/s12881-019-0802-2 DO - 10.1186/s12881-019-0802-2 ID - Won2019 ER -