An Additional Individual with a De Novo Variant in Myelin Regulatory Factor (MYRF) with Cardiac and Urogenital Anomalies: Further Proof of Causality: Comments on the article by Pinz et al. (2018)

被引:21
作者
Chitayat, David [1 ,2 ]
Shannon, Patrick [3 ]
Uster, Tami [1 ]
Nezarati, Marjan M. [4 ]
Schnur, Rhonda E. [5 ]
Bhoj, Elizabeth J. [6 ,7 ]
机构
[1] Univ Toronto, Mt Sinai Hosp, Dept Obstet & Gynecol, Prenatal Diag & Med Genet Program, Toronto, ON, Canada
[2] Univ Toronto, Hosp Sick Children, Dept Pediat, Div Clin & Metab Genet, Toronto, ON, Canada
[3] Univ Toronto, Mt Sinai Hosp, Dept Pathol & Lab Med, Toronto, ON, Canada
[4] Univ Toronto, North York Gen Hosp, Genet Program, Toronto, ON, Canada
[5] GeneDx, Gaithersburg, MD USA
[6] Childrens Hosp Philadelphia, Div Human Genet, Philadelphia, PA 19104 USA
[7] Childrens Hosp Philadelphia, Ctr Appl Genom, Philadelphia, PA 19104 USA
关键词
D O I
10.1002/ajmg.a.40360
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:2041 / 2043
页数:3
相关论文
共 1 条
[1]   De novo variants in Myelin regulatory factor (MYRF) as candidates of a new syndrome of cardiac and urogenital anomalies [J].
Pinz, Hailey ;
Pyle, Louise C. ;
Li, Dong ;
Izumi, Kosuke ;
Skraban, Cara ;
Tarpinian, Jennifer ;
Braddock, Stephen R. ;
Telegrafi, Aida ;
Monaghan, Kristin G. ;
Zackai, Elaine ;
Bhoj, Elizabeth J. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (04) :969-972