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EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia (small, underd...
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| Publicado no: | Int J Mol Sci |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
MDPI
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7926380/ https://ncbi.nlm.nih.gov/pubmed/33671840 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms22042190 |
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