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Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population

Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the COL18A1 gene. This study aimed to investigate novel variants of COL18A1 in Knobloch syndrome and describe the associated phenotype...

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Detalles Bibliográficos
Autores principales:	Li, Songshan, Wang, You, Sun, Limei, Yan, Wenjia, Huang, Li, Zhang, Zhaotian, Zhang, Ting, Ding, Xiaoyan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536191/ https://www.ncbi.nlm.nih.gov/pubmed/34680907 http://dx.doi.org/10.3390/genes12101512

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