Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population

The diagnostic yield of genetic testing for ocular/oculocutaneous albinism (OA/OCA) in a diverse pediatric population in the United States (U.S.) is unclear. Phenotypes of 53 patients who presented between 2006–2022 with OA/OCA were retrospectively correlated with genetic testing results. Genetic di...

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Detalles Bibliográficos
Autores principales: Chan, Kyle S., Bohnsack, Brenda L., Ing, Alexander, Drackley, Andy, Castelluccio, Valerie, Zhang, Kevin X., Ralay-Ranaivo, Hanta, Rossen, Jennifer L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9859104/
https://www.ncbi.nlm.nih.gov/pubmed/36672876
http://dx.doi.org/10.3390/genes14010135

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