A previously unreported de novo FBN1 missense variant associated with a severe phenotype of neonatal Marfan syndrome

被引：0
|
作者：
Skaerbaek, Jens [1 ]
Markholt, Sara [2 ]
Gregersen, Pernille Axel [2 ,3 ]
Munk, Kim [4 ]
Andersen, Brian Nauheimer [3 ]
Petersen, Jesper Padkaer [5 ,6 ]
Bjerre, Jesper Vandborg [7 ]
Kyng, Kasper Jacobsen [5 ,6 ]
机构：
[1] Vejle Hosp, Lillebaelt Hosp, Dept Clin Genet, Vejle, Denmark
[2] Aarhus Univ Hosp, Dept Clin Genet, Aarhus, Denmark
[3] Aarhus Univ Hosp, Dept Paediat, Ctr Rare Dis, Aarhus, Denmark
[4] Aarhus Univ Hosp, Dept Cardiol, Aarhus, Denmark
[5] Aarhus Univ Hosp, Neonatal Intens Care Unit, Aarhus, Denmark
[6] Aarhus Univ Hosp, Perinatal Res Unit, Dept Paediat, Aarhus, Denmark
[7] Aarhus Univ Hosp, Dept Paediat, Aarhus, Denmark
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2023年 / 31卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
EP05.014
引用
收藏
页码：126 / 126
页数：1
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