Combined Single Gene Testing and Genome Sequencing as an Effective Diagnostic Approach for Anophthalmia and Microphthalmia Patients

Anophthalmia and microphthalmia (A/M) are among the most severe congenital developmental eye disorders. Despite the advancements in genome screening technologies, more than half of A/M patients do not receive a molecular diagnosis. We included seven consanguineous families affected with A/M from Pak...

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Detalles Bibliográficos
Autores principales: Basharat, Rabia, Rodenburg, Kim, Rodríguez-Hidalgo, María, Jarral, Afeefa, Ullah, Ehsan, Corominas, Jordi, Gilissen, Christian, Zehra, Syeda Tatheer, Hameed, Usman, Ansar, Muhammad, de Bruijn, Suzanne E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454697/
https://www.ncbi.nlm.nih.gov/pubmed/37628625
http://dx.doi.org/10.3390/genes14081573

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