Genetic testing for ocular coloboma

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for ocular coloboma (COI). COI is inherited in an autosomal dominant manner associated with variations in the PAX6, ABCB6 and FZD5 genes and in an autosomal recessive manner asso...

Täydet tiedot

Bibliografiset tiedot
Päätekijät: Abeshi Andi, Marinelli Carla, Beccari Tommaso, Dundar Munis, Colombo Leonardo, Bertelli Matteo
Aineistotyyppi: Artikkeli
Kieli:English
Julkaistu: Sciendo 2017-10-01
Sarja:The EuroBiotech Journal
Linkit:https://doi.org/10.24190/ISSN2564-615X/2017/S1.09