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Article

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia.

Genes - 13 Jul 2021

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

Abstract excerpt

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 three autosomal dominant family members with pediatric cataract and microphthalmia, as well as one unaffected family...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34356085
DOI: 10.3390/genes12071069
PMCID: PMC8308043

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