Fine Breakpoint Mapping by Genome Sequencing Reveals the First Large X Inversion Disrupting the NHS Gene in a Patient with Syndromic Cataracts

Inversions are structural variants that are generally balanced. However, they could lead to gene disruptions or have positional effects leading to diseases. Mutations in the NHS gene cause Nance-Horan syndrome, an X-linked disorder characterised by congenital cataracts and dental anomalies. Here, we...

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Detalles Bibliográficos
Autores principales: Damián, Alejandra, Ionescu, Raluca Oancea, Rodríguez de Alba, Marta, Tamayo, Alejandra, Trujillo-Tiebas, María José, Cotarelo-Pérez, María Carmen, Pérez Rodríguez, Olga, Villaverde, Cristina, de la Fuente, Lorena, Romero, Raquel, Núñez-Moreno, Gonzalo, Mínguez, Pablo, Ayuso, Carmen, Cortón, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8657747/
https://www.ncbi.nlm.nih.gov/pubmed/34884523
http://dx.doi.org/10.3390/ijms222312713

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