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

Xiaoyan LiHua XieQian ChenXiongying YuZhaoshi YiErzhen LiTing ZhangJian WangJianmin ZhongXiaoli Chen

Published in: BMC medical genetics (2017)

We provided the largest known Chinese pedigree with MECP2 duplication syndrome. The detailed clinical description and molecular genetic characterization in all affected family members further delineate the typical phenotype of this genomic disorder in Chinese population.

Keyphrases

case report
early onset
copy number