Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3.
Tuysuz, B.; Mizumoto, S.; Sugahara, K.; Çelebi, A.; Mundlos, S.; Turkmen, S.; Clinical Genetics, 2009, vol. 75, issue 4, p 375, ISSN 00099163. ISBN 13990004.

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