Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype–phenotype association
Article in BMC Medical Genomics (December 2022)
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Article in BMC Medical Genomics (December 2022)
Preprint in Research Square (December 2022)
Article in Frontiers in Genetics (April 2022)