Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

BACKGROUND: Mutations in CRYAA, which encodes the α-crystallin protein, are associated with a spectrum of congenital cataract–microcornea syndromes. RESULTS: In this study, we performed clinical examination and subsequent genetic analysis in two unrelated sporadic cases of different geographical ori...

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Detalles Bibliográficos
Autores principales: Marakhonov, Andrey V., Voskresenskaya, Anna A., Ballesta, Maria Jose, Konovalov, Fedor A., Vasilyeva, Tatyana A., Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A., Kadyshev, Vitaly V., López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A., Corton, Marta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427288/
https://www.ncbi.nlm.nih.gov/pubmed/32791987
http://dx.doi.org/10.1186/s13023-020-01484-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7427288/
https://www.ncbi.nlm.nih.gov/pubmed/32791987
http://dx.doi.org/10.1186/s13023-020-01484-8

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