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Molecular Genetic Analysis of Ukrainian Families with Congenital Cataracts

This study was designed to identify the pathogenic variants in five Ukrainian families with autosomal dominant congenital cataracts. Cataracts can be defined broadly as any opacity of the crystalline lens. Lens development is orchestrated by transcription factors. Disease-causing variants in transcr...

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Detalles Bibliográficos
Autores principales: Jiao, Xiaodong, Viswanathan, Mariia, Bobrova, Nadiia Fedorivna, Romanova, Tatiana Viktorivna, Hejtmancik, J. Fielding
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9856374/
https://www.ncbi.nlm.nih.gov/pubmed/36670602
http://dx.doi.org/10.3390/children10010051