Article
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
American journal of human genetics - 1 Jun 2001
Gedeon A K, Tiller G E, Le Merrer M, Heuertz S, Tranebjaerg L, Chitayat D, Robertson S, Glass I A, Savarirayan R, Cole W G, Rimoin D L, Kousseff B G, Ohashi H, Zabel B, Munnich A, Gecz J, Mulley J C
Abstract excerpt
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-linked SEDL ascertained from different ethnic populations. Twenty-one different disease-associated...
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