Koolen de Vries syndrome
Other Names for this Disease
- 17q21.31 deletion syndrome
- Monosomy 17q21.31
- Microdeletion 17q21.31 syndrome
- Chromosome 17q21.31 microdeletion syndrome
- 17q21.31 microdeletion syndrome
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- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The 17q21.31 Research Project aims to better characterize the clinical spectrum of Koolen de Vries syndrome, to provide insights into the molecular effects of the 17q21.31 deletion and KANSL1 mutation, and to explore possibilities for treatment. These research studies are being conducted by investigators at the Department of Human Genetics, Radbound Univeristy Medical Center, Nijmegen, Netherlands and at the Department of Genome Sciences, University of Washington, Seattle, United States.
- Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.