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.

Autor: Pelleri, Maria Chiara1 (AUTHOR), Locatelli, Chiara2 (AUTHOR), Mattina, Teresa3 (AUTHOR), Bonaglia, Maria Clara4 (AUTHOR), Piazza, Francesca1 (AUTHOR), Magini, Pamela5 (AUTHOR), Antonaros, Francesca1 (AUTHOR), Ramacieri, Giuseppe1,6 (AUTHOR), Vione, Beatrice1 (AUTHOR), Vitale, Lorenza1 (AUTHOR), Seri, Marco5,6 (AUTHOR), Strippoli, Pierluigi1 (AUTHOR), Cocchi, Guido6 (AUTHOR), Piovesan, Allison1 (AUTHOR) allison.piovesan2@unibo.it, Caracausi, Maria1 (AUTHOR)
Zdroj: BMC Medical Genomics. 12/21/2022, Vol. 15 Issue 1, p1-12. 12p.
Databáze: Academic Search Ultimate
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