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 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
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
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