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The Identification and Stereochemistry Analysis of a Novel Mutation p.(D367Tfs*61) in the CYP1B1 Gene: A Case Report
PURPOSE: To investigate the presence of a probable genetic defect(s) that may cause primary congenital glaucoma (PCG) in a seven-year-old female patient. METHODS: A seven-year-old female patient and her family received genetic counseling and underwent full clinical examinations by an expert ophthalm...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer - Medknow
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7265266/ https://www.ncbi.nlm.nih.gov/pubmed/32510024 http://dx.doi.org/10.1016/j.joco.2019.09.004 |