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The novel nonsense variation in PAX6 was the cause of aniridia
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2021-01-21
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Homo sapiens Exome. Homo sapiens
We identified a novel microdeletion, 517 kb in size located about 133 kb downstream of the PAX6 gene, responsible for congenital aniridia in this Chinese family, which expands the spectrum of aniridia
NIAID Data Ecosystem40
Supplementary Material for: COEXISTENCE OF CONGENITAL ANIRIDIA AND PTOSIS IN A PATIENT WITH NEUROFIBROMATOSIS TYPE I: A CASE REPORT.
Introduction Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene on chromosome 17q11.2. The main ocular manifestations include Lisch nodules, optic pathway gliomas
DataCite Commons2025-05-27 更新40
Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent. Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent
This SuperSeries is composed of the SubSeries listed below. Overall design: Refer to individual Series
NIAID Data Ecosystem20
Specifications of Real-Time PCR Primers.
Purpose Previous work demonstrated that supraphysiological glucose remodels TGF-β1 and NF-κB signaling in human limbal stromal cells (LSCs) and congenital aniridia-derived LSCs (AN-LSCs). The present
NIAID Data Ecosystem40
ELISA kit information.
Purpose In congenital aniridia, not only limbal epithelial cells but also limbal stromal cells may contribute to the development of aniridia associated keratopathy (AAK). Secondary glaucoma affects 50
NIAID Data Ecosystem20
