Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

Chromosomal deletions at 11p13 are a frequent cause of congenital Aniridia, a rare pan-ocular genetic disease, and of WAGR syndrome, accounting up to 30% of cases. First-tier genetic testing for newborn with aniridia, to detect 11p13 rearrangements, includes Multiplex Ligation-dependent Probe Amplif...

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Detalles Bibliográficos
Autores principales: Blanco-Kelly, Fiona, Palomares, María, Vallespín, Elena, Villaverde, Cristina, Martín-Arenas, Rubén, Vélez-Monsalve, Camilo, Lorda-Sánchez, Isabel, Nevado, Julián, Trujillo-Tiebas, María José, Lapunzina, Pablo, Ayuso, Carmen, Corton, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2017
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952/
https://www.ncbi.nlm.nih.gov/pubmed/28231309
http://dx.doi.org/10.1371/journal.pone.0172363

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5322952/
https://www.ncbi.nlm.nih.gov/pubmed/28231309
http://dx.doi.org/10.1371/journal.pone.0172363

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