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PRPF4 gene capture sequencing in a congenital aniridia patient
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创建时间：
2018-03-22
相关数据集
Novel variants in PAX6 that cause of aniridia
The novel nonsense variation in PAX6 was the cause of aniridia
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Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent (AKK miRNA). Conjunctival mRNA and miRNA expression profiles in congenital aniridia are genotype and phenotype dependent (AKK miRNA)
Purpose: To evaluate conjunctival cell microRNA and mRNA expression in relation to observed phenotype and genotype of aniridia-associated keratopathy (AAK) in a cohort of subjects with congenital anir
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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
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Data Files for: Pedersen et. al. The cone photoreceptor mosaic in aniridia: within-family phenotype-genotype discordance
In this descriptive case-control study we used high-resolution in-vivo retinal imaging to investigate within-family variability in macular retinal layer thicknesses, cone photoreceptor density
DataCite Commons2025-12-19 更新60
Genetic Analysis of ‘ PAX6 -Negative’ Individuals with Aniridia or Gillespie Syndrome
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were
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