期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 146A, 期 21, 页码 2804-2809出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.32530
关键词
Robinow syndrome; syringomyelia; ROR2; intragenic deletion
Robinow syndrome comprises dysmorphic facial features, short stature, brachymesomelia, segmental spine defects, and genital hypoplasia. The range of severity in this disorder is broad. We report on the clinical and molecular finding of two sib pairs from the same extended family with Robinow syndrome due to a novel intragenic ROR2 deletion involving exons 6 and 7 that could not be detected by sequencing. The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which ahs not been previously reported in Robinow syndrome. (c) 2008 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据