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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536191/
https://www.ncbi.nlm.nih.gov/pubmed/34680907
http://dx.doi.org/10.3390/genes12101512

Ejemplares similares