Article
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining.
International journal of molecular sciences - 28 Nov 2019
Totoń-Żurańska Justyna, Kapusta Przemysław, Rybak-Krzyszkowska Magda, Lorenc Katarzyna, Machlowska Julita, Skalniak Anna, Filipek Erita, Pawlik Dorota, Wołkow Paweł P
Abstract excerpt
Anterior segment dysgenesis (ASD) encompasses a spectrum of ocular disorders affecting the structures of the anterior eye chamber. Mutations in several genes, involved in eye development, are implicated in this disorder. ASD is often accompanied by diverse multisystemic symptoms and another genetic cause, such as variants in genes encoding collagen type IV. Thus, a wide spectrum of phenotypes and underlying...
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