Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

• Main Authors: Xiaoyan Li (Author), Hua Xie (Author), Qian Chen (Author), Xiongying Yu (Author), Zhaoshi Yi (Author), Erzhen Li (Author), Ting Zhang (Author), Jian Wang (Author), Jianmin Zhong (Author), Xiaoli Chen (Author)
• Format: Book
• Published: BMC, 2017-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of ne...