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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 Varian...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6331da45a83a44b3b5ad220aa82fb52c

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

About this item

Full title

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

Publisher

Basel: MDPI AG

Journal title

Diagnostics (Basel), 2021-09, Vol.11 (9), p.1576

Language

English

Formats

Publication information

Publisher

Basel: MDPI AG

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN Gene: A Case Report

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_6331da45a83a44b3b5ad220aa82fb52c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6331da45a83a44b3b5ad220aa82fb52c

Other Identifiers

ISSN

2075-4418

E-ISSN

2075-4418

DOI

10.3390/diagnostics11091576

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