Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

Defects in optic fissure closure can lead to congenital ocular coloboma. This ocular malformation, often associated with microphthalmia, is described in various clinical forms with different inheritance patterns and genetic heterogeneity. In recent times, the identification of an increased number of...

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Dades bibliogràfiques
Publicat a:Eur J Hum Genet
Autors principals: Aubert-Mucca, Marion, Pernin-Grandjean, Julie, Marchasson, Sébastien, Gaston, Veronique, Habib, Christophe, Meunier, Isabelle, Sigaudy, Sabine, Kaplan, Josseline, Roche, Olivier, Denis, Danièle, Bitoun, Pierre, Haye, Damien, Verloes, Alain, Calvas, Patrick, Chassaing, Nicolas, Plaisancié, Julie
Format: Artigo
Idioma:Inglês
Publicat: Springer International Publishing 2020
Matèries:
Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7853074/
https://ncbi.nlm.nih.gov/pubmed/32737437
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0695-8
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