Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.

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作者： Eva,González-Iglesias ^[1] ; Ana,López-Vázquez ^[2] ; Susana,Noval ^[2] ; María,Nieves-Moreno ^[2] ; María,Granados-Fernández ^[2] ; Natalia,Arruti ^[2] ; Irene,Rosa-Pérez ^[2] ; Marta,Pacio-Míguez ^[3] ; Victoria E F,Montaño ^[4] ; Patricia,Rodríguez-Solana ^[1] ; Angela,Del Pozo ^[5] ; Fernando,Santos-Simarro ^[6] ; Elena,Vallespín ^[4]

作者单位： Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain. ^[1] Department of Ophthalmology, La Paz University Hospital, 28046 Madrid, Spain. ^[2] Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.;Section of Neurodevelopmental Disorders, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain. ^[3] Section of Molecular Ophthalmology, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain.;Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain. ^[4] Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.;Section of Clinical Bioinformatics, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain. ^[5] Biomedical Research Center in the Rare Diseases Network (CIBERER), Carlos II Health Institute (ISCIII), 28029 Madrid, Spain.;Section of Clinical Genetics, Medical and Molecular Genetics Institute (INGEMM) IdiPaz, La Paz University Hospital, 28046 Madrid, Spain. ^[6]

关键词 early-onset high myopia next-generation sequencing ophthalmogenetics

主题词 DNA突变分析(DNA Mutational Analysis);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);突变(Mutation);近视(Myopia);系谱(Pedigree);视网膜营养不良(Retinal Dystrophies)

DOI 10.3390/ijms23084233

PMID 35457050

发布时间 2024-08-26

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