ArticleAmerican journal of translational research2022
Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant.
Article in American journal of translational research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 1 citations in OpenAlex.
- Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts.BMC medical genomics · 2026Article
- Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital cataracts, an important cause of permanent visual loss in children, are predominantly caused by hereditary factors. Genetic variants reportedly cause approximately 50% of congenital cataracts. The literature mainly describes cases of autosomal dominant inheritance diagnosed after birth, and minimal information is available concerning the prenatal diagnosis of X-linked congenital cataracts. Prenatal ultrasound is the primary method for diagnosis of congenital cataracts, whereas the diagnostic value of prenatal genetic testing remains controversial; however, such testing is reportedly essential for determination of disease etiology. Here, we describe a 33-year-old multigravida woman with a singleton pregnancy who was referred to our center at 24 weeks for routine prenatal examination; ultrasound imaging revealed bilateral cataracts in the male fetus. Genetic testing revealed a pathogenic variant in exon 11 of the OCRL inositol polyphosphate-5-phosphatase (
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36628231PMC9827286W4315621354What OpenQuestion holds
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