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Biallelic in-frame deletion of SOX4 is associated with developmental delay, hypotonia and intellectual disability 期刊论文
发表期刊: EUROPEAN JOURNAL OF HUMAN GENETICS. 出版年: 2022
作者:  Ghaffar, Amama;  Rasheed, Faiza;  Rashid, Muhammad;  van Bokhoven, Hans;  Ahmed, Zubair M.;  Riazuddin, Sheikh;  Riazuddin, Saima
收藏  |  浏览/下载：10/0  |  提交时间：2021/11/29
Comprehensive Genetic Analysis of OEIS Complex Reveals No Evidence for a Recurrent Microdeletion or Duplication 期刊论文
发表期刊: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 出版年: 2011, 卷号: 155A, 期号: 1, 页码: 38-49
作者:  Vlangos, Christopher N.;  Siuniak, Amanda;  Ackley, Todd;  van Bokhoven, Hans;  Veltman, Joris;  Iyer, Ram;  Park, John M.;  Keppler-Noreuil, Kim;  Keegan, Catherine E.
收藏  |  浏览/下载：15/0  |  提交时间：2019/11/29
omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex  cloacal exstrophy  candidate gene analysis  array CGH