Article

EFEMP1 rare variants cause juvenile-onset open angle glaucoma in families from the Philippines

2021-07-19

Abstract excerpt

Juvenile open angle glaucoma (JOAG) is a severe type of glaucoma with childhood onset and dominant inheritance. Using exome sequencing we identified 3 independent families from the Philippines with rare EFEMP1 variants (c.238A>T, p.Asn80Tyr; c.1480T>C p.Ter494Glnext*29; and c.1429C>T, p.Arg477Cysteine ) co-segregating with disease. Affected variant carriers (N= 34) exhibited severe disease with average age of onse...

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Literature Corpus work: a4e28c96-4ac4-54e8-a3ef-bb2c7aa27681
DOI: 10.22541/au.162673232.22241174/v1

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