Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterized by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma, and aniridia-related keratopathy (ARK). Genotype-phenotype correlations have previously been described; however, detailed longitudinal studie...

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Detalles Bibliográficos
Autores principales: Kit, Vivienne, Cunha, Dulce Lima, Hagag, Ahmed M., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410060/
https://www.ncbi.nlm.nih.gov/pubmed/34101622
http://dx.doi.org/10.1172/jci.insight.148406

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8410060/
https://www.ncbi.nlm.nih.gov/pubmed/34101622
http://dx.doi.org/10.1172/jci.insight.148406

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