A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia-Reference-Cited by-同舟云学术

A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital Aniridia

Published:2019-07 Issue:7 Volume:23 Page:495-500
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Xiao Ying¹,Liu Xiangqin²³,Yang Chen²,Liu Liping¹,Guo Xiaoxin²,Wang Qi¹,Gong Bo²³

Affiliation:

1. Department of Ophthalmology, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong, China.

2. The Key Laboratory for Human Disease Gene Study of Sichuan Province and Department of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China.

3. Institute of Chengdu Biology, Sichuan Translational Medicine Hospital, Chinese Academy of Sciences, Chengdu, Sichuan, China.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0334

Reference34 articles.

1. Novel and De-novo TruncatingPAX6Mutations and Ocular Phenotypes in Thai Aniridia Patients

2. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

3. The Human PAX6 Mutation Database

4. Pax: Gene regulators in the developing nervous system

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1. A rare missense PAX6 mutation causes atypical aniridia in a three-generation Chinese family;International Journal of Ophthalmology;2024-03-18

2. A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia;Journal of Personalized Medicine;2023-02-28

3. Detection of a novel PAX6 variant in a Chinese family with multiple ocular abnormalities;BMC Ophthalmology;2022-01-16

4. Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus;Ophthalmic Genetics;2021-08-03

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