Novel Mutation in <i>CRYBB3</i> Causing Pediatric Cataract and Microphthalmia

Novel Mutation in <i>CRYBB3</i> 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 (<i>CRYBB3</i>) has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation we...

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Bibliographic Details
Main Authors: Olivia A. Zin, Luiza M. Neves, Fabiana L. Motta, Dafne D. G. Horovitz, Leticia Guida, Leonardo H. F. Gomes, Daniela P. Cunha, Ana Paula S. Rodrigues, Andrea A. Zin, Juliana M. F. Sallum, Zilton F. M. Vasconcelos
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
genotype
phenotype
pediatric cataract
congenital cataract
microphthalmia
pediatric ophthalmology
Online Access:https://www.mdpi.com/2073-4425/12/7/1069

Internet

https://www.mdpi.com/2073-4425/12/7/1069

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