Publications by authors named "F Ernould"
Article Synopsis
- Dominant variants in the RARB gene cause MCOPS12, a type of microphthalmia that comes with various birth defects and developmental delays, impacting 25 individuals in this study.
- The research employed transcriptional assays and structural analysis to evaluate how these RARB variants affect its typical function, revealing both gain-of-function and loss-of-function activities.
- Findings indicate that while RARB disruption leads to a variety of clinical outcomes, some affected individuals may not show key symptoms like eye abnormalities or motor issues, highlighting the complexity of these genetic variations.
Acute strabismus accommodative spasm about an adult. A 17 years old woman presents an acute strabismus with accommodative spasm. The different diagnostics and treatments are evoked.
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