Article
Identification of three novel SEDL mutations, including mutation in the rare, non-canonical splice site of exon 4.
Clinical genetics - 1 Sept 2003
Shaw M A, Brunetti-Pierri N, Kádasi L, Kovácová V, Van Maldergem L, De Brasi D, Salerno M, Gécz J
Abstract excerpt
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked recessive disorder, characterized by disproportionately short stature and degenerative joint disease, which manifests in the early teens. The gene responsible for SED tarda, SEDL, has been identified in Xp22. We report on three novel SEDL mutations. The first mutation is in the rare, non-canonical 5' splice site of intron 4 (IVS4+4T>C) in an Italian family....
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