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

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

Mutations in PAX6 are involved in several developmental eye disorders. These disorders have considerable phenotypic variability, ranging from panocular forms of congenital aniridia and microphthalmia to isolated anomalies of the anterior or posterior segment. Here, we describe 3 families with variab...

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Bibliographic Details
Main Authors: María Tarilonte, Matías Morín, Patricia Ramos, Marta Galdós, Fiona Blanco-Kelly, Cristina Villaverde, Dolores Rey-Zamora, Gema Rebolleda, Francisco J. Muñoz-Negrete, Saoud Tahsin-Swafiri, Blanca Gener, Miguel-Angel Moreno-Pelayo, Carmen Ayuso, Manuela Villamar, Marta Corton
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-10-01
Series:Frontiers in Genetics
Subjects:
parental mosaicism
PAX6
aniridia
variable expressivity
microphthalmia
post-zygotic variants
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00479/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00479/full

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