Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity

被引：0
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作者：
Sevcan Mercan
Nihan Hande Akcakaya
Baris Salman
Zuhal Yapici
Ugur Ozbek
Sibel Aylin Ugur Iseri
机构：
[1] Istanbul University,Department of Genetics, Aziz Sancar Institute of Experimental Medicine
[2] Istanbul University,Graduate School of Health Sciences
[3] Kafkas University,Department of Bioengineering, Faculty of Engineering and Architecture
[4] Demiroglu Bilim University,Department of Neurology, Faculty of Medicine
[5] Spastic Children’s Foundation of Turkey,Department of Neurology, Istanbul Faculty of Medicine
[6] Istanbul University,Department of Medical Genetics, Faculty of Medicine
[7] Acıbadem Mehmet Ali Aydinlar University,undefined
来源：
Genes & Genomics | 2023年 / 45卷
关键词：
Microcephaly; Intellectual disability; Exome sequencing (ES); Parent of origin effect;
D O I：
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学科分类号：
摘要：
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页码：13 / 21
页数：8
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