Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3
CLINICAL GENETICS, vol.75, no.4, pp.375-383, 2009 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 75 Issue: 4
- Publication Date: 2009
- Doi Number: 10.1111/j.1399-0004.2009.01167.x
- Journal Name: CLINICAL GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Page Numbers: pp.375-383
- Istanbul University Affiliated: Yes
Abstract
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, 2009