Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia-Reference-Cited by-同舟云学术

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Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia

Published:2018-10-17 Issue: Volume:9 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Tarilonte María,Morín Matías,Ramos Patricia,Galdós Marta,Blanco-Kelly Fiona,Villaverde Cristina,Rey-Zamora Dolores,Rebolleda Gema,Muñoz-Negrete Francisco J.,Tahsin-Swafiri Saoud,Gener Blanca,Moreno-Pelayo Miguel-Angel,Ayuso Carmen,Villamar Manuela,Corton Marta

Funder

Instituto de Salud Carlos III

Ministerio de Economía, Industria y Competitividad, Gobierno de España

Federación Española de Enfermedades Raras

Fundación Mutua Madrileña

Comunidad de Madrid

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference45 articles.

1. Post-zygotic point mutations are an underrecognized source of de novo genomic variation.;Acuna-Hidalgo;Am. J. Hum. Genet.,2015

2. New insights into the generation and role of de novo mutations in health and disease.;Acuna-Hidalgo;Genome Biol.,2016

3. Genetic analysis of ‘PAX6-Negative’ individuals with Aniridia or Gillespie syndrome.;Ansari;PLoS One,2016

4. Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations.;Azuma;Am. J. Hum. Genet.,2003

5. Genetic analysis of the Rhodopsin gene identifies a mosaic dominant retinitis Pigmentosa mutation in a healthy individual.;Beryozkin;Invest. Ophthalmol. Vis. Sci.,2016

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1. The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families;Investigative Ophthalmology & Visual Science;2024-08-30

2. Analysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families;Current Medical Science;2024-07-05

3. Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants;Molecular Systems Biology;2024-06-07

4. Corneal Epithelial Development and the Role of Induced Pluripotent Stem Cells for Regeneration;Current Stem Cell Research & Therapy;2024-04

5. A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD;BMC Medical Genomics;2023-08-04

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