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Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

BACKGROUND: Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FB...

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Detalles Bibliográficos
Autores principales:	Alías, Laura, Crespi, Jaume, González-Quereda, Lidia, Téllez, Jesús, Martínez, Elisabeth, Bernal, Sara, Gallano, Ma Pia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5948732/ https://www.ncbi.nlm.nih.gov/pubmed/29751740 http://dx.doi.org/10.1186/s12881-018-0590-0

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