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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Detalhes bibliográficos

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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2024-05-01
coleção:	BMC Genomics
Assuntos:	Childhood glaucoma Congenital glaucoma Genetic eye disorders Developmental eye diseases Whole genome sequencing Genomics
Acesso em linha:	https://doi.org/10.1186/s12864-024-10353-8
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