Case Report: Novel Biallelic Variants in the COL18A1 Gene in a Chinese Family With Knobloch Syndrome

Knobloch syndrome is a rare collagenopathy characterized by severe early onset myopia, retinal detachment, and occipital encephalocele with various additional manifestations due to biallelic changes in the COL18A1 gene. Here we reported a Chinese family with two affected siblings presented with ante...

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Detalles Bibliográficos
Autores principales: Chong, Shuk Ching, Yuen, Yuet-Ping, Cao, Ye, Fan, Sze-Shing, Leung, Tak Yeung, Chan, Emily K. Y., Zhu, Xian Lun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178278/
https://www.ncbi.nlm.nih.gov/pubmed/35693012
http://dx.doi.org/10.3389/fneur.2022.853918

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9178278/
https://www.ncbi.nlm.nih.gov/pubmed/35693012
http://dx.doi.org/10.3389/fneur.2022.853918

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