12q14.3 microdeletion involving HMGA2 gene cause a Silver-Russell syndrome-like phenotype: a case report and review of the literature

by Francesca Mercadante, Martina Busè, Emanuela Salzano, Tiziana Fragapane, Daniela Palazzo, Michela Malacarne, Maria Piccione
Published 2020-07-01

Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes

by Carmela Rita Balistreri, Claudia Leonarda Ammoscato, Letizia Scola, Tiziana Fragapane, Rosa Maria Giarratana, Domenico Lio, Maria Piccione
Published 2020-11-01