<i>EPHA2</i> Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families

<i>EPHA2</i> 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 <i>EPHA2</i> variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphtha...

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Bibliographic Details
Main Authors: Philippa Harding, Maria Toms, Elena Schiff, Nicholas Owen, Suzannah Bell, Ian Christopher Lloyd, Mariya Moosajee
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:International Journal of Molecular Sciences
Subjects:
<i>EPHA2</i>
microphthalmia
cataracts
congenital
eye
development
Online Access:https://www.mdpi.com/1422-0067/22/4/2190

Internet

https://www.mdpi.com/1422-0067/22/4/2190

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