Refining the clinical spectrum of the 17p13.3 microduplication syndrome: case-report of a familial small microduplication

HIGHLIGHTS

• who: Jorge Diogo Da Silva and collaborators from the Centro de Genu00e9tica Mu00e9dica Doutor Jacinto Magalhu00e3es (CGM), Centro Hospitalar Universitu00e1rio do, Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho have published the article: Refining the Clinical Spectrum of the 17p13.3 Microduplication Syndrome: Case-Report of a Familial Small Microduplication, in the Journal: Biomedicines 2022, 10, 3078. of /2022/
• what: The authors report a case of a 7-year-old boy with global developmental delay speech impairment hypotonia behavioral conditions (ADHD and ODD) non-specific dysmorphic features and overgrowth.
 



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