A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia

Andrade Azevedo de Vasconcelos, A., Kyun Oh, J., Guan, B., Torres, V. L. L., Lynch Gaete, M. I., & Lima de Carvalho, J. R. (2025). A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia. Ophthalmic Genetics, 1–5. https://doi.org/10.1080/13816810.2024.2447499
Authors:
Aurea C. Vasconcelos
Jin Kyun Oh
Bin Guan
Virgínia Laura Lucas Torres
Maria Isabel Lynch Gaete
José Ronaldo Lima de Carvalho
Affiliated Authors:
Jin Kyun Oh
Columbia Affiliation:
Subjects:
Frameshift Mutation (MeSH)
Connexin 43 (MeSH)
Tooth Abnormalities (MeSH)
Eye Abnormalities (MeSH)
Syndactyly (MeSH)
Craniofacial Abnormalities (MeSH)
Foot Deformities, Congenital (MeSH)
Genes, Recessive (MeSH)
Structure and Function of Gap Junctions and Connexins (OpenAlex Topic)
Heme Oxygenase and Carbon Monoxide Research (OpenAlex Topic)
Genetic and Pathogenic Study of Plague Bacteria (OpenAlex Topic)
Author Keywords:
oculodentodigital syndrome
cataract
genetics
case report
ophthalmology
elink
Publication Type:
Article
Unique ID:
10.1080/13816810.2024.2447499
PMID:
39833124
DOI:
10.1080/13816810.2024.2447499
Journal:
Ophthalmic Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
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Record Created: