Associated Papers
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia.
Kit V et al.
Jci Insight, 2021
34101622 (PubMed )
Supplement: jciinsight-6-148406-s192.xlsx › Frameshift_mutation
The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.
Méjécase C et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
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