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Article

Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific reports - 14 Oct 2022

Rauf Bushra, Khan Shahid Y, Jiao Xiaodong, Irum Bushra, Ashfaq Ramla, Zehra Mubashra, Khan Asma A, Naeem Muhammad Asif, Shahzad Mohsin, Riazuddin Sheikh, Hejtmancik J Fielding, Riazuddin S Amer

Abstract excerpt

To delineate the genetic bases of primary congenital glaucoma (PCG), we ascertained a large cohort consisting of 48 consanguineous families. Of these, we previously reported 26 families with mutations in CYP1B1 and six families with LTBP2, whereas the genetic bases responsible for PCG in 16 families remained elusive. We employed next-generation whole exome sequencing to delineate the genetic basis of PCG in four...

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Identifiers

PMID: 36241656
DOI: 10.1038/s41598-022-20939-5
PMCID: PMC9568502

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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