Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis

• Κύριοι συγγραφείς: Yi Gu (Συγγραφέας), Bingwu Xiang (Συγγραφέας), Lina Zhu (Συγγραφέας), Xiuwei Ma (Συγγραφέας), Xiang Chen (Συγγραφέας), Tao Cai (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: BMC, 2020-05-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Abstract Background To date, at least 746 genes have been identified to cause intellectual disability (ID). Among them, mutations in the Methyl CpG binding protein 2 (MECP2) gene are the leading cause of Rett syndrome and associated ID. Methods Considering the large number of ID-associated genes, we...