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, cilt.75, sa.4, ss.375-383, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

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