Articles with "region dscr" as a keyword



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Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21

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Published in 2019 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.797

Abstract: Down syndrome (DS) is characterized by the presence of an extra full or partial human chromosome 21 (Hsa21). An invaluable model to define genotype‐phenotype correlations in DS is the study of the extremely rare cases… read more here.

Keywords: dscr; critical region; region dscr; highly restricted ... See more keywords