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Panel‐based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns

BACKGROUND: Microphthalmia and anophthalmia (MA) are congenital eye abnormalities that show an extremely high clinical and genetic complexity. In this study, we evaluated the implementation of whole exome sequencing (WES) for the genetic analysis of MA patients. This approach was used to investigate...

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Detalles Bibliográficos
Autores principales:	Riera, Marina, Wert, Ana, Nieto, Isabel, Pomares, Esther
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702572/ https://www.ncbi.nlm.nih.gov/pubmed/29178648 http://dx.doi.org/10.1002/mgg3.329

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