Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!

被引:0
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作者
Kumari Pritti
Vineet Mishra
Somesh Aggarwal
Mehul Mistri
Manisha Chhetry
机构
[1] Dr. HL Trivedi Institute of Transplantation Sciences (IKDRC-ITS),Genetics Division, Department of Obstetrics and Gynecology, Institute of Kidney Diseases and Research Center
[2] Institute of Kidney Diseases and Research Center,Department of Obstetrics and Gynecology
[3] B.P. Koirala Institute of Health Sciences,Department of Obstetrics and Gynecology
[4] M & J Regional Institute of Ophthalmology,undefined
[5] Neuberg Center for Genomic Medicine,undefined
来源
Egyptian Journal of Medical Human Genetics | / 25卷
关键词
Anterior segment dysgenesis; Novel mutation; Peters anomaly; Variants of uncertain significance;
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