Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 (CRYBB3) has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation were performed in thr...

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Detalles Bibliográficos
Autores principales: Zin, Olivia A., Neves, Luiza M., Motta, Fabiana L., Horovitz, Dafne D. G., Guida, Leticia, Gomes, Leonardo H. F., Cunha, Daniela P., Rodrigues, Ana Paula S., Zin, Andrea A., Sallum, Juliana M. F., Vasconcelos, Zilton F. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8308043/
https://www.ncbi.nlm.nih.gov/pubmed/34356085
http://dx.doi.org/10.3390/genes12071069

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8308043/
https://www.ncbi.nlm.nih.gov/pubmed/34356085
http://dx.doi.org/10.3390/genes12071069

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