Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining

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...

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Detalles Bibliográficos
Autores principales: Totoń-Żurańska, Justyna, Kapusta, Przemysław, Rybak-Krzyszkowska, Magda, Lorenc, Katarzyna, Machlowska, Julita, Skalniak, Anna, Filipek, Erita, Pawlik, Dorota, Wołkow, Paweł P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928627/
https://www.ncbi.nlm.nih.gov/pubmed/31795264
http://dx.doi.org/10.3390/ijms20236006

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