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Last Updated: 03/06/2025
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2 clinical trials
Study of the Consequences of Mutations of the RNU4ATAC and RTTN Genes by Transcriptomic, Biochemical and Cellular Approaches in Order to Determine the Pathophysiology of Their Associated Syndromes: Microcephalic Osteodysplastic Primordial Dwarfism Type I/III, Roifman Syndrome and Lowry-Wood Syndrome
Enrollment Status: Recruiting
Publish Date: October 09, 2024
Intervention Type: Other
Study Phase: Not Applicable
Distance: 3493.7 mi
Summary: In the human genome, about 750 genes contain one intron excised by the minor spliceosome. These genes are named U12 genes, and these introns, minor or U12 introns. The minor spliceosome comprises its own set of snRNAs, among which U4atac. Its non-coding gene, RNU4ATAC, has been found mutated in Taybi-Linder (TALS), Roifman (RFMN) and Lowry-Wood syndromes (LWS). These rare developmental disorders a...
Primordial Registry at Nemours/A. I. duPont Hospital for Children
Enrollment Status: Recruiting
Publish Date: October 01, 2024
Distance: 85.3 mi
Summary: The goal of this registry is to collect information on individuals with forms of microcephalic primordial dwarfism. The study team hopes to learn more about these conditions and improve the care of people with it by establishing this registry.
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Last Updated: 03/06/2025