Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3

Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.Clin Genet 2009: 75: 375-383. (C) Blackwell Munksgaard, 200