Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

Coloboma and microphthalmia (C/M) are related congenital eye malformations, which can cause significant visual impairment. Molecular diagnosis is challenging as the genes associated to date with C/M account for only a small percentage of cases. Overall, the genetic cause remains unknown in up to 80%...

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Detalles Bibliográficos
Autores principales: Haug, Patricia, Koller, Samuel, Maggi, Jordi, Lang, Elena, Feil, Silke, Wlodarczyk, Agnès, Bähr, Luzy, Steindl, Katharina, Rohrbach, Marianne, Gerth-Kahlert, Christina, Berger, Wolfgang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7825129/
https://www.ncbi.nlm.nih.gov/pubmed/33418956
http://dx.doi.org/10.3390/genes12010065

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