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, vol.75, no.4, pp.375-383, 2009 (Journal Indexed in SCI) identifier identifier identifier

  • 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