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

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

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 d...

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Bibliographic Details
Main Authors: Vivian Kwun Sin Ng, Tze Kin Lau, Anita Sik Yau Kan, Brian Hon Yin Chung, Ho Ming Luk, Wai Fu Ng, Mengmeng Shi, Kwong Wai Choy, Ye Cao, Wing Cheong Leung
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Diagnostics
Subjects:
<i>OCLN</i> gene
whole genome sequencing
microphthalmia
microcephaly
cataract
prenatal diagnosis
Online Access:https://www.mdpi.com/2075-4418/11/9/1576

Internet

https://www.mdpi.com/2075-4418/11/9/1576

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