HIGHLIGHTS
- who: Jorge Diogo Da Silva and colleagues from the Centro Genu00e9tica Mu00e9dica Jacinto Magalhu00e3es (CGM), Centro Hospitalar Universitu00e1rio do Life and Health Sciences Research Institute (ICVS), School of Medicine, University of Minho have published the research: A Novel Frameshift CHD4 Variant Leading to Sifrim-Hitz-Weiss Syndrome in a Proband with a Subclinical Familial t(17;19) and a Large dup(2)(q14.3q21.1), in the Journal: Biomedicines 2023, 11, 12. of /2023/
- what: The authors report on a proband exhibiting a complex NDD associated with multilocus genomic and genetic variants, namely, a maternally . . .
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