Pathogenic copy number variations involved in the genetic etiology of syndromic and non-syndromic intellectual disability—data from a romanian cohort

HIGHLIGHTS

• who: Ioana Streau021bu0103 and colleagues from the Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, Craiova have published the research work: Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disabilityu2014Data from a Romanian Cohort, in the Journal: Diagnostics 2022, 3137 of /2022/
• what: Based on the clinical data, the most frequently reported phenotypes are also the main reasons of referral: GDD/ID, MCA and/or dysmorphia, and ASD . The main reasons for referral for CMA testing in the study were GDD/ID, MCA, dysmorphic facial . . .
  

   

  

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