Associated Papers
A novel missense variant in TRAPPC2 causes X-linked spondyloepiphyseal dysplasia tarda: A case report.
Zhang L et al.
Medicine, 2021
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family.
Zhang C et al.
Bmc Medical Genetics, 2020
A novel nonsense mutation in the sedlin gene (SEDL) causes severe spondyloepiphyseal dysplasia tarda in a five-generation Chinese pedigree.
Xia XY et al.
Genetics and Molecular Research : Gmr, 2014
The adaptor function of TRAPPC2 in mammalian TRAPPs explains TRAPPC2-associated SEDT and TRAPPC9-associated congenital intellectual disability.
Zong M et al.
Plos One, 2011
SEDLIN forms homodimers: characterisation of SEDLIN mutations and their interactions with transcription factors MBP1, PITX1 and SF1.
Jeyabalan J et al.
Plos One, 2010
Biochemical consequences of sedlin mutations that cause spondyloepiphyseal dysplasia tarda.
Choi MY et al.
The Biochemical Journal, 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
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
Savarirayan R et al.
European Journal of Human Genetics : Ejhg, 2003
Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda.
Jang SB et al.
The Journal of Biological Chemistry, 2002
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