Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project

Abstract Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and unlocking the potential for optimising clinical ma...

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Principais autores:	Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	BMC 2024-05-01
סדרה:	BMC Genomics
נושאים:	Childhood glaucoma Congenital glaucoma Genetic eye disorders Developmental eye diseases Whole genome sequencing Genomics
גישה מקוונת:	https://doi.org/10.1186/s12864-024-10353-8
תגים:	הוספת תג אין תגיות, היה/י הראשונ/ה לתייג את הרשומה!