Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005)
Case reports of oculofaciocardiodental syndrome with unusual dental findings (Am J Med Genet 136A: 275–277, 2005)
复制标题
具有异常牙科表现的眼面心牙综合征的病例报告（Am J Med Genet 136A：275-277，2005）
DOI：
10.1002/ajmg.a.30936
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发表时间：
2005
影响因子：
2
通讯作者：
A. Slavotinek
中科院分区：
文献类型：
--
作者：
S. Oberoi;A. Winder;J. Johnston;K. Vargervik;A. Slavotinek
We report on two new cases of oculofaciocardiodental (OFCD) syndrome characterized by cataracts, microphthalmia, facial anomalies, cleft palate, cardiac septal defects, and canine radiculomegaly. We also review previous patients. The syndrome is caused by mutations in the BCOR gene, which maps to Xp11.4. Mutational analysis in one of our patients showed a deletion of a single nucleotide, c.2613delC, predicting a novel frameshift mutation with a premature stop codon, p.F871Lfs8X.
