A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Varian...
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
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Basel: MDPI AG
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Language
English
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Basel: MDPI AG
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Microcephaly and microphthalmia are both rare congenital abnormalities, while concurrently, these two are even rarer. The underlying etiology would be complex interplaying between heterogeneous genetic background and the environmental pathogens, particularly during critical periods of early tissue development. Here, we reported a prenatal case with...
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Full title
A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report
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TN_cdi_doaj_primary_oai_doaj_org_article_6331da45a83a44b3b5ad220aa82fb52c
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6331da45a83a44b3b5ad220aa82fb52c
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ISSN
2075-4418
E-ISSN
2075-4418
DOI
10.3390/diagnostics11091576