Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and cases of non-specific multisystemic diseases. Th...

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Библиографические подробности
Опубликовано в: :Sci Rep
Главные авторы: Sanchez-Navarro, Iker, R. J. da Silva, Luciana, Blanco-Kelly, Fiona, Zurita, Olga, Sanchez-Bolivar, Noelia, Villaverde, Cristina, Lopez-Molina, Maria Isabel, Garcia-Sandoval, Blanca, Tahsin-Swafiri, Saoud, Minguez, Pablo, Riveiro-Alvarez, Rosa, Lorda, Isabel, Sanchez-Alcudia, Rocío, Perez-Carro, Raquel, Valverde, Diana, Liu, Yichuan, Tian, Lifeng, Hakonarson, Hakon, Avila-Fernandez, Almudena, Corton, Marta, Ayuso, Carmen
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group UK 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5869593/
https://ncbi.nlm.nih.gov/pubmed/29588463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-23520-1
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