Clinical findings and genetic analysis of patients with copy number variants involving 17p13.3 using a single nucleotide polymorphism array: a single-center experience

• Κύριοι συγγραφείς: Bin Liang (Συγγραφέας), Donghong Yu (Συγγραφέας), Wantong Zhao (Συγγραφέας), Yan Wang (Συγγραφέας), Xiaoqing Wu (Συγγραφέας), Lingji Chen (Συγγραφέας), Na Lin (Συγγραφέας), Hailong Huang (Συγγραφέας), Liangpu Xu (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2022-12-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Abstract Background 17p13.3 microdeletions or microduplications (collectively known as copy number variants or CNVs) have been described in individuals with neurodevelopmental disorders. However, 17p13.3 CNVs were rarely reported in fetuses. This study aims to investigate the clinical significance o...