First Prenatal Case of Genotypically and Phenotypically Overlapping Double Molecular Diagnosis of Van den Ende-Gupta and 22q11.2 Deletion Syndromes
首例基因型和表型重叠的范登恩德-古普塔综合征和22q11.2缺失综合征的产前双重分子诊断病例
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.70096
Racine, Caroline; Garde, Aurore; Martz, Olivia; Safraou, Hana; Eluard, Vinciane; Rousseau, Thierry; Marle, Nathalie; Harizay, Fara T; Martin, Laurent; Maraval, Julien; Bruel, Ange-Line; Philippe, Christophe; Thauvin-Robinet, Christel; Faivre, Laurence