Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Bindu Somarajan I"'
Autor:
Viney Gupta, Bindu Somarajan I, Shikha Gupta, Karthikeyan Mahalingam, Abhishek Singh, Arundhati Sharma
Publikováno v:
Journal of Human Genetics. 68:355-358
Mutations in the PAX6 gene are generally associated with aniridia. We describe a family with Juvenile onset open angle glaucoma (JOAG), where two siblings were detected to have a pathogenic variant in the PAX6 gene in the absence of aniridia. Whole e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3e05a3b2795aab8026a961f4865c86d
https://doi.org/10.1038/s10038-022-01115-z
https://doi.org/10.1038/s10038-022-01115-z
Autor:
Viney Gupta, Arnav Panigrahi, Bindu Somarajan I, Shikha Gupta, Koushik Tripathy, Abhishek Singh, Anshul Sharma, Radhika Tandon, Amit Das, Dibyabhaba Pradhan, Arundhati Sharma, Tushar Kushwaha, Krishna Inampudi K
Purpose: To describe a novel association of TGFBI variants with congenital glaucoma in a family with GAPO (growth retardation, alopecia, pseudoanodontia, and progressive optic atrophy) syndrome as well as among unrelated cases of Juvenile onset open
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7ff157160708bbaabc2d04df4324d6c9
https://doi.org/10.22541/au.165812674.48680553/v1
https://doi.org/10.22541/au.165812674.48680553/v1
