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Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded!
被引:0
|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
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/
25卷
关键词:
Anterior segment dysgenesis;
Novel mutation;
Peters anomaly;
Variants of uncertain significance;
D O I:
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