Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome

Mutations in CHD7 have been shown to be a major cause of CHARGE syndrome, which presents many symptoms and features common to other syndromes making its diagnosis difficult. Next generation sequencing (NGS) of a panel of intellectual disability related genes was performed in an adult patient without...

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Detalles Bibliográficos
Autores principales: Villate, Olatz, Ibarluzea, Nekane, Fraile-Bethencourt, Eugenia, Valenzuela, Alberto, Velasco, Eladio A., Grozeva, Detelina, Raymond, F. L., Botella, María P., Tejada, María-Isabel
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/PMC5790995/
https://www.ncbi.nlm.nih.gov/pubmed/29434620
http://dx.doi.org/10.3389/fgene.2018.00007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5790995/
https://www.ncbi.nlm.nih.gov/pubmed/29434620
http://dx.doi.org/10.3389/fgene.2018.00007

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