Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report.

Xin XuFen LuLi ZhangHongying LiSenjie DuJian Tang

Published in: BMC pediatrics (2021)

Our investigation expands the phenotype spectrum for CLCN4 variants with syndromic X-linked intellectual disability, which help to improve the understanding of CLCN4-related intellectual disability and will help in genetic counselling for this family.

Keyphrases

intellectual disability
autism spectrum disorder
copy number
genome wide
smoking cessation
gene expression
hepatitis c virus
human immunodeficiency virus
hiv infected
hiv testing
antiretroviral therapy