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Article

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

Orphanet journal of rare diseases - 13 Aug 2020

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

Abstract excerpt

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 origins presenting with a complex phenotype of ocular malformation. Both cases manifested bilateral microphthalmia and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32791987
DOI: 10.1186/s13023-020-01484-8
PMCID: PMC7427288

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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