The genetic counseling in a patient affected by choroideremia solved with the whole-exome sequencing approach
Main Authors: | Bedia Sahin, Erik Burton, Okkes Kuybu, Yavuz Sahin, John Brinkley |
---|---|
Format: | Article |
Language: | English |
Published: |
Wolters Kluwer Medknow Publications
2022-01-01
|
Series: | Indian Journal of Ophthalmology |
Subjects: | |
Online Access: | http://www.ijo.in/article.asp?issn=0301-4738;year=2022;volume=70;issue=7;spage=2693;epage=2694;aulast=Sahin |
Similar Items
-
Multimodal imaging reveals retinoschisis masquerading as retinal detachment in patients with choroideremia
by: Luciano C. Greig, et al.
Published: (2022-06-01) -
Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses
by: Feng-Juan Gao, et al.
Published: (2020-06-01) -
Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment
by: Anna Skorczyk-Werner, et al.
Published: (2018-12-01) -
Choroideremia: The Endpoint Endgame
by: Maram E. A. Abdalla Elsayed, et al.
Published: (2023-09-01) -
Evaluation of amplification refractory mutation system (ARMS) technique for quick and accurate prenatal gene diagnosis of CHM variant in choroideremia
by: Yang L, et al.
Published: (2017-12-01)