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

• Hoofdauteurs: Joon Yeon Won (Auteur), Dayeon Kim (Auteur), Seon Young Park (Auteur), Hye Ran Lee (Auteur), Jong-Seok Lim (Auteur), Jong Hoon Park (Auteur), Mi Hyun Song (Auteur), Hae Ryong Song (Auteur), Ok-Hwa Kim (Auteur), Yonghwan Kim (Auteur), Tae-Joon Cho (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2019-05-01T00:00:00Z.
• Onderwerpen: article
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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...