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; Clinical Genetics, 2009, vol. 75, issue 4, p 375, ISSN 13990004. ISBN 13990004.

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