EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families
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DOI: 10.3390/ijms22042190
Abstract: 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… read more here.
Keywords: microphthalmia congenital; microphthalmia; congenital cataracts; unrelated families ... See more keywords