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
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
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
Gedeon AK et al.
American Journal of Human Genetics, 2001
Select a paper to view details