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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
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 |
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