Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Open Access

Peer-reviewed

Research Article

Shazia Micheal,

Affiliation Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands
⨯
Sorath Noorani Siddiqui,

Affiliation Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan
⨯
Saemah Nuzhat Zafar,

Affiliation Department of Pediatric Ophthalmology, Al-Shifa Eye Trust Hospital Jhelum Road, Rawalpindi, Pakistan
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Aftab Iqbal,

Affiliation School of Biosciences, University of Westminster, London, United Kingdom
⨯
Muhammad Imran Khan,

Affiliation Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
⨯
Anneke I. den Hollander

* E-mail: Anneke.denHollander@radboudumc.nl

Affiliations Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands, Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands
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Frameshift mutation
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Mutation detection
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Homozygosity
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Eye lens
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