Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study

• Κύριοι συγγραφείς: Jianlong Zhuang (Συγγραφέας), Qiulan Wei (Συγγραφέας), Yuying Jiang (Συγγραφέας), Shuhong Zeng (Συγγραφέας), Haijuan Lou (Συγγραφέας), Na Zhang (Συγγραφέας), Chunnuan Chen (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2024-09-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Abstract Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected. The objective of the present study was to elucidate the pathogenicity and clinical variability associated with isolated recurrent...