Associated Papers
Comprehensive genotype-phenotype analysis in POLR3-related disorders.
Michell-Robinson MA et al.
Hgg Advances, 2025
40684265 (PubMed )
Supplement: mmc3.xlsx › S2
Sequence features, structure, ligand interaction, and diseases in small leucine rich repeat proteoglycans.
Matsushima N et al.
Journal of Cell Communication and Signaling, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Analysis of KERA in four families with cornea plana identifies two novel mutations.
Dudakova L et al.
Acta Ophthalmologica, 2018
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
Roos L et al.
Bmc Medical Genetics, 2015
Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
Dudakova L et al.
Ophthalmic Genetics, 2014
[Analysis on gene mutations in a Chinese pedigree with autosomal dominant inheritance cataract].
Yan M et al.
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2009
Recessive cornea plana in the Kingdom of Saudi Arabia.
Khan AO et al.
Ophthalmology, 2006
Corneal ectasia and hydrops in a patient with autosomal recessive cornea plana.
Khan AO et al.
Ophthalmic Genetics, 2006
[Investigation on 82 families with congenital cataract].
Jin YZ
[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 1983
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