HIGHLIGHTS
- who: September and collaborators from the University of Milan, Italy have published the research work: Vici syndrome in Israel: Clinical and molecular insights, in the Journal: (JOURNAL)
- what: The authors aimed to characterize the clinical and molecular findings in individuals harboring biallelic EPG5 variants, recruited from four medical centers in Israel. The authors aimed to utilize a machine_learningbased tool to assess facial features of Vici syndrome. Amongst 140,491 individuals screened by the Dor Yeshorim Program, the authors show that the c.1007A>G variant has an overall carrier frequency of 0.45% (1 in . . .
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