A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Irum, Bushra; Kabir, Firoz; Shoshany, Nadav; Khan, Shahid Y; Rauf, Bushra; Naeem, Muhammad Asif; Qaiser, Tanveer A; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer

Irum, Bushra; Kabir, Firoz; Shoshany, Nadav; Khan, Shahid Y; Rauf, Bushra; Naeem, Muhammad Asif; Qaiser, Tanveer A; Riazuddin, Sheikh; Hejtmancik, J Fielding; Riazuddin, S Amer.

Affiliation

Irum B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Kabir F; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Shoshany N; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Khan SY; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD, 20892, USA.
Rauf B; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Naeem MA; The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
Qaiser TA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Riazuddin S; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.
Hejtmancik JF; Jinnah Burn & Reconstructive Surgery Centre, Jinnah Hospital, Lahore, 54550, Pakistan.
Riazuddin SA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, 53700, Pakistan.

Hum Genome Var ; 9(1): 31, 2022 Sep 08.

Article in En | MEDLINE | ID: mdl-36075891

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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: Hum Genome Var Year: 2022 Document type: Article Affiliation country: Country of publication:

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