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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199369/
https://www.ncbi.nlm.nih.gov/pubmed/30386378
http://dx.doi.org/10.3389/fgene.2018.00479

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199369/
https://www.ncbi.nlm.nih.gov/pubmed/30386378
http://dx.doi.org/10.3389/fgene.2018.00479

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