Associated Papers
Identification and functional analysis of a novel TRAPPC2 intronic variant in a four-generation Chinese pedigree with SEDT.
Lyu Y et al.
Frontiers in Genetics, 2026
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.
Won JY et al.
Bmc Medical Genetics, 2019
A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
Zhang H et al.
Journal of Human Genetics, 2015
[Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Wu X et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Novel TRAPPC2 mutation in a boy with X-linked spondylo-epiphyseal dysplasia tarda.
Adachi H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2014
Aberrant and alternative splicing in skeletal system disease.
Fan X et al.
Gene, 2013
X-linked spondyloepiphyseal dysplasia tarda: Identification of a TRAPPC2 mutation in a Korean pedigree.
Ryu H et al.
Annals of Laboratory Medicine, 2012
A novel RNA-splicing mutation in TRAPPC2 gene causing x-linked spondyloepiphyseal dysplasia tarda in a large Chinese family.
Guo H et al.
Journal of Genetics, 2009
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
Fiedler J et al.
Human Mutation, 2004
X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.
Bar-Yosef U et al.
American Journal of Medical Genetics. Part A, 2004
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Shaw MA et al.
Clinical Genetics, 2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Savarirayan R et al.
European Journal of Human Genetics : Ejhg, 2003
[Gene diagnosis of X-linked spondyloepiphyseal dysplasia tarda by linkage analysis and DNA sequencing].
Wang HL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2003
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
Tiller GE et al.
American Journal of Human Genetics, 2001