Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract

IMPORTANCE: Identification of geographic population-based differences in genotype and phenotype heterogeneity are important for targeted and patient-specific diagnosis and treatment, counseling, and screening strategies. OBJECTIVE: To report disease-causing variants and their detailed phenotype in p...

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Detalhes bibliográficos
Publicado no:JAMA Ophthalmol
Main Authors: Rechsteiner, Delia, Issler, Lydia, Koller, Samuel, Lang, Elena, Bähr, Luzy, Feil, Silke, Rüegger, Christoph M., Kottke, Raimund, Toelle, Sandra P., Zweifel, Noëmi, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Suter, Aude-Annick, Gogoll, Laura, Haas, Cordula, Berger, Wolfgang, Gerth-Kahlert, Christina
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8138751/
https://ncbi.nlm.nih.gov/pubmed/34014271
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamaophthalmol.2021.0385
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