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...

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Detalles Bibliográficos
Autores principales: Salehi Chaleshtori, Ahmad Reza, Garshasbi, Masoud, Salehi, Ali, Noruzinia, Mehrdad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2020
Materias:
Case Report
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

Internet

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

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