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

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 collagen...

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Bibliografische gegevens
Gepubliceerd in:BMC Med Genet
Hoofdauteurs: Won, Joon Yeon, Kim, Dayeon, Park, Seon Young, Lee, Hye Ran, Lim, Jong-Seok, Park, Jong Hoon, Song, Mi Hyun, Song, Hae Ryong, Kim, Ok-Hwa, Kim, Yonghwan, Cho, Tae-Joon
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2019
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6500034/
https://ncbi.nlm.nih.gov/pubmed/31053099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0802-2
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