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Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain
PURPOSE: Oculodentodigital dysplasia (ODDD) is a group disorder caused by GJA1 variants, of which glaucoma leading to blindness is a frequent complication of the ocular phenotype. In this study, the correlation of the GJA1 genotype with the ocular phenotype was analyzed systematically. METHODS: GJA1...
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| Publié dans: | Mol Vis |
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| Auteurs principaux: | , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Molecular Vision
2021
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8131177/ https://ncbi.nlm.nih.gov/pubmed/34035645 |
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