A Fetus with Congenital Microcephaly, Microphthalmia and Cataract Was Detected with Biallelic Variants in the OCLN 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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Detalles Bibliográficos
Autores principales: Ng, Vivian Kwun Sin, Lau, Tze Kin, Kan, Anita Sik Yau, Chung, Brian Hon Yin, Luk, Ho Ming, Ng, Wai Fu, Shi, Mengmeng, Choy, Kwong Wai, Cao, Ye, Leung, Wing Cheong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472215/
https://www.ncbi.nlm.nih.gov/pubmed/34573918
http://dx.doi.org/10.3390/diagnostics11091576

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8472215/
https://www.ncbi.nlm.nih.gov/pubmed/34573918
http://dx.doi.org/10.3390/diagnostics11091576

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