Publications by authors named "Victor L Ruiz Perez"
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Synopsis of recent research by authors named "Victor L Ruiz Perez"
- Victor L Ruiz Perez's recent research focuses on genetic disorders, specifically syndromic conditions related to skeletal dysplasia and neurodevelopmental disorders, as well as the molecular mechanisms underlying these conditions.
- Key findings include identifying pathogenic variants in genes like MYBBP1A, DYNC2H1, and MAPKAPK5, which have been linked to various syndromic disorders such as Non-immune hydrops fetalis and Ellis van Creveld syndrome.
- Additionally, the research explores the impact of genetic variants on ciliary functions and their role in developmental processes, highlighting the importance of understanding genotype-phenotype correlations in hereditary diseases.
