Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Author:
Affiliation:
1. Genetics Unit, Saint Joseph University, Beirut, Lebanon
2. Department of Pediatrics, Saint George Hospital, Beirut, Lebanon
3. Medical Genetics Department, Hotel Dieu de France, Beirut, Lebanon
Publisher
Informa UK Limited
Subject
Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health
Link
https://www.tandfonline.com/doi/pdf/10.1080/13816810.2021.1955277
Reference13 articles.
1. Detection of c.139G>A (D47N) mutation in GJA8 gene in an extended family with inheritance of autosomal dominant zonular cataract without pulverulent opacities by exome sequencing
2. Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts
3. Aetiology of congenital and paediatric cataract in an Australian population
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1. Cataracts in Havanese: genome wide association study reveals two loci associated with posterior polar cataract;Canine Medicine and Genetics;2023-04-28
2. Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract;Molecular Genetics & Genomic Medicine;2022-05-31
3. Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract (CTRCT18): a case report;Egyptian Journal of Medical Human Genetics;2022-03-05
4. FYCO1 Frameshift Deletion in Wirehaired Pointing Griffon Dogs with Juvenile Cataract;Genes;2022-02-11
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