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… Click to show full abstract
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 three unrelated families in which previous single‐gene analyses failed to identify the molecular cause.
Keywords:
exome sequencing;
based whole;
microphthalmia anophthalmia;
whole exome;
panel based
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2017
Link to full text (if available)
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recommendations!