Cargando…

A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD

BACKGROUND: The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. METHODS: One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and general...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Qian, Wei, Wen Bin, Shi, Xiang Yu, Rong, Wei Ning
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10401864/ https://www.ncbi.nlm.nih.gov/pubmed/37542296 http://dx.doi.org/10.1186/s12920-023-01620-w

Ejemplares similares

A novel variant in PAX6 as the cause of aniridia in a Chinese family
por: Jin, X, et al.
Publicado: (2021)

Identification of a novel PAX6 mutation in a Chinese family with aniridia
por: Qiu, Jing-Jing, et al.
Publicado: (2019)

Mutation spectrum of PAX6 in Chinese patients with aniridia
por: Zhang, Xiaohui, et al.
Publicado: (2011)

A novel PAX6 deletion in a Chinese family with congenital aniridia
por: Chen, Jian Huan, et al.
Publicado: (2012)

PAX6 disease models for aniridia
por: Abdolkarimi, Dorsa, et al.
Publicado: (2022)

Novel PAX6 mutation reported in an aniridia patient
por: Winegarner, Andrew, et al.
Publicado: (2017)

Novel clinical presentation and PAX6 mutation in families with congenital aniridia
por: Guo, Ruru, et al.
Publicado: (2022)

A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract
por: Cai, Fucheng, et al.
Publicado: (2010)

PAX6 aniridia and interhemispheric brain anomalies
por: Abouzeid, Hana, et al.
Publicado: (2009)

Mutation spectrum of PAX6 and clinical findings in 95 Chinese patients with aniridia
por: You, Bing, et al.
Publicado: (2020)

A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia
por: Li, Yinwen, et al.
Publicado: (2023)

A Novel PAX6 Frameshift Mutation Identified in a Large Chinese Family with Congenital Aniridia
por: Wang, Chenghu, et al.
Publicado: (2023)

Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
por: Neethirajan, Guruswamy, et al.
Publicado: (2006)

PAX6 gene variations associated with aniridia in south India
por: Neethirajan, Guruswamy, et al.
Publicado: (2004)

Genotype–phenotype correlation of PAX6 gene mutations in aniridia
por: Yokoi, Tadashi, et al.
Publicado: (2016)

PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia
por: Pedersen, Hilde R., et al.
Publicado: (2020)

A novel de novo PAX6 mutation in an Ashkenazi-Jewish family with aniridia
por: Bandah, Dikla, et al.
Publicado: (2008)

Molecular analysis of Cypriot families with aniridia reveals a novel PAX6 mutation
por: Syrimis, Andreas, et al.
Publicado: (2018)

Case of a novel PAX6 mutation with aniridia and insulin‐dependent diabetes mellitus
por: Motoda, Saori, et al.
Publicado: (2018)

A nonsense PAX6 mutation in a family with congenital aniridia
por: Han, Kyoung Hee, et al.
Publicado: (2016)

A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities
por: Zhuang, Jianfu, et al.
Publicado: (2014)

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome
por: Ansari, Morad, et al.
Publicado: (2016)

A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family
por: Jin, Chongfei, et al.
Publicado: (2012)

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study
por: Vasilyeva, Tatyana A., et al.
Publicado: (2023)

A novel 4.25 kb heterozygous deletion in PAX6 in a Chinese Han family with congenital aniridia combined with cataract and nystagmus
por: Qian, Tianwei, et al.
Publicado: (2021)

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
por: Aggarwal, Shagun, et al.
Publicado: (2011)

Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China
por: Kang, Yang, et al.
Publicado: (2012)

PAX6, brain structure and function in human adults: advanced MRI in aniridia
por: Yogarajah, Mahinda, et al.
Publicado: (2016)

Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families
por: Chograni, Manèl, et al.
Publicado: (2014)

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia
por: Kit, Vivienne, et al.
Publicado: (2021)

Phenotypic Variation in a Four-Generation Family with Aniridia Carrying a Novel PAX6 Mutation
por: Wang, Grace M., et al.
Publicado: (2018)

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation
por: Hu, Ping, et al.
Publicado: (2015)

A rare case of congenital aniridia with an unusual run-on mutation in PAX6 gene
por: Ratna, Ria, et al.
Publicado: (2022)

Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
por: Villarroel, Camilo E., et al.
Publicado: (2008)

Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: Identification of four novel mutations
por: Park, Shin Hae, et al.
Publicado: (2012)

A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family
por: Cheng, Fang, et al.
Publicado: (2011)

Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia
por: Tarilonte, María, et al.
Publicado: (2018)

Identification of dominant FOXE3 and PAX6 mutations in patients with congenital cataract and aniridia
por: Brémond-Gignac, Dominique, et al.
Publicado: (2010)

PAX6 analysis of two sporadic patients from southern China with classic aniridia
por: Lin, Ying, et al.
Publicado: (2012)

Identification of a novel frameshift mutation in PAX6 gene and the clinical management in an Asian Indian aniridia family
por: Palayil, Isham, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_51ej5qnlv9tradh1iksnkjftn5