Phenotypic spectrum in four cases presenting 16p11.2 reciprocal CNVs associated with additional rare gene variants - pleiotropic clinical outcomes

被引：0
|
作者：
Barbarii, Teodora [1 ]
Barca, Diana [2 ,3 ,4 ]
Tudorache, Raluca [2 ,3 ]
Nedelea, Florina Mihaela [1 ,5 ]
Cardos, Georgeta [5 ]
Craiu, Dana [6 ]
机构：
[1] Univ Med & Pharm Carol Davila, Med Genet, Bucharest, Romania
[2] Clin Hosp Prof Dr Alexandru Obregia, Bucharest, Romania
[3] Pediat Neurol Clin, Expertise Ctr Rare Pediat Neurol Disorders, Bucharest, Romania
[4] Univ Med & Pharm Carola Davila, Pediat Neurol, Bucharest, Romania
[5] Filantropia Clin Hosp Obstet & Gynecol, Med Genet, Bucharest, Romania
[6] Univ Med & Pharm Carola Davila, Dept Neurosci, Pediat Neurol Discipline, Bucharest, Romania
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：
P10.015.B
引用
收藏
页码：472 / 472
页数：1
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