Abstract
AbstractWe report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.
Funder
Ministry of Health, Labour and Welfare, Japan | Tsubame Rosai Hospital
Ministry of Health, Labour and Welfare
MEXT | Japan Society for the Promotion of Science
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Cited by
2 articles.
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