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Article

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

Molecular genetics & genomic medicine - 1 Nov 2017

Riera Marina, Wert Ana, Nieto Isabel, Pomares Esther

Abstract excerpt

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 three unrelated families in which previous single-gene analyses failed to identify the molecular cause. METHODS: A...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29178648
DOI: 10.1002/mgg3.329
PMCID: PMC5702572

Genes

OTX2
PAX6
RBP4

Provenance

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