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
Aberrant and alternative splicing in skeletal system disease.
Fan X et al.
Gene, 2013
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
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
[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
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