Article

A novel variant in PAX6 as the cause of aniridia in a Chinese family

2020-12-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Aniridia is a kind of congenital human pan-ocular anomaly, which is related to <italic>PAX6 </italic>commonly.<bold>Methods: </bold>The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: f8f786fa-263e-5cea-9fca-f3adf90d19ab
DOI: 10.21203/rs.3.rs-21412/v3

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A novel variant in PAX6 as the cause of aniridia in a Chinese familyDOI 10.21203/rs.3.rs-21412/v3Read

A novel variant in PAX6 as the cause of aniridia in a Chinese family.Semantic proximity Read

Detection of A Novel PAX6 Mutation In A Chinese Family With Multiple Ocular AbnormalitiesSemantic proximity Read

Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities.Semantic proximity Read

Novel variants in PAX6 gene caused congenital aniridia in two Chinese families.Semantic proximity Read

A Novel 4.25kb Deletion in PAX6 in A Chinese Han Family with Congenital Aniridia Combined with Cataract and NystagmusSemantic proximity Read

Two novel PAX6 mutations identified in northeastern Chinese patients with aniridia.Semantic proximity Read

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family.Semantic proximity Read

Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.Semantic proximity Read

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family.Semantic proximity Read

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD.Semantic proximity Read

Genetics and epidemiology of aniridia: Updated guidelines for genetic study.Semantic proximity Read

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China.Semantic proximity Read