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

• Główni autorzy: Xiaoyan Li (Autor), Hua Xie (Autor), Qian Chen (Autor), Xiongying Yu (Autor), Zhaoshi Yi (Autor), Erzhen Li (Autor), Ting Zhang (Autor), Jian Wang (Autor), Jianmin Zhong (Autor), Xiaoli Chen (Autor)
• Format: Książka
• Wydane: BMC, 2017-11-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: 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...