Article
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics - 1 Jun 2001
Tiller G E, Hannig V L, Dozier D, Carrel L, Trevarthen K C, Wilcox W R, Mundlos S, Haines J L, Gedeon A K, Gecz J
Abstract excerpt
Spondyloepiphyseal dysplasia tarda (SEDL) is a genetically heterogeneous disorder characterized by mild-to-moderate short stature and early-onset osteoarthritis. Both autosomal and X-linked forms have been described. Elsewhere, we have reported the identification of the gene for the X-linked recessive form, which maps to Xp22.2. We now report characterization of an exon-skipping mutation (IVS3+5G-->A at the...
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