Associated Papers
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
X-linked Spondyloepiphyseal Dysplasia Tarda with Mutation in TRAPPC2Gene: First Report from India.
Tamhankar PM et al.
Journal of Orthopaedic Case Reports, 2020
A novel insertion mutation in the SEDL gene results in X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
Xia XY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
Lin Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Identification of a missense mutation in SEDL gene from a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Zhou WJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
X-linked spondyloepiphyseal dysplasia tarda: Novel and recurrent mutations in 13 European families.
Fiedler J et al.
Human Mutation, 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
[Identification of a novel mutation IVS2-2A-->C of SEDL gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
Gao C et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Christie PT et al.
The Journal of Clinical Endocrinology and Metabolism, 2001