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Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree
AIM: To explore the clinical feature and genetic etiology of a Chinese Knobloch syndrome family. METHODS: Ocular examinations and magnetic resonance imagings (MRIs) were performed on the family. Whole exome sequencing was conducted on the two patients. Sanger sequencing was utilized to validate the...
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| Veröffentlicht in: | Int J Ophthalmol |
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| Hauptverfasser: | , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
International Journal of Ophthalmology Press
2018
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6010381/ https://ncbi.nlm.nih.gov/pubmed/29977801 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.06.04 |
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