Cargando…
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts
Non-syndromic pediatric cataracts are defined as opacification of the crystalline lens that occurs during the first years of life without affecting other organs. Given that this disease is one of the most frequent causes of reversible blindness in childhood, the main objective of this study was to p...
Autores principales: | Rodríguez-Solana, Patricia, Arruti, Natalia, Nieves-Moreno, María, Mena, Rocío, Rodríguez-Jiménez, Carmen, Guerrero-Carretero, Marta, Acal, Juan Carlos, Blasco, Joana, Peralta, Jesús M., Del Pozo, Ángela, Montaño, Victoria E. F., Dios-Blázquez, Lucía De, Fernández-Alcalde, Celia, González-Atienza, Carmen, Sánchez-Cazorla, Eloísa, Gómez-Cano, María de Los Ángeles, Delgado-Mora, Luna, Noval, Susana, Vallespín, Elena |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380485/ https://www.ncbi.nlm.nih.gov/pubmed/37511188 http://dx.doi.org/10.3390/ijms241411429 |
Ejemplares similares
-
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia
por: Sánchez-Cazorla, Eloísa, et al.
Publicado: (2023) -
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus
por: González-Atienza, Carmen, et al.
Publicado: (2023) -
OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Pediatric Population
por: Arruti, Natalia, et al.
Publicado: (2023) -
Molecular and Genetic Mechanism of Non-Syndromic Congenital Cataracts. Mutation Screening in Spanish Families
por: Fernández-Alcalde, Celia, et al.
Publicado: (2021) -
Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study
por: González-Iglesias, Eva, et al.
Publicado: (2022)