Article
From phenotype to mechanism: Prenatal spectrum of NKAP mutation-related disorder and its pathogenesis inducing congenital heart disease.
Journal of cellular and molecular medicine - 1 Apr 2024
Xu Xiayuan, Gao Chengcheng, Ye Fenglei, Peng Aohui, Xu Jianbo, Jin Keqin, Zhang Jun, Ye Yun, Yang Yanfen, Zhang Xuan, Shen Shuangshuang, Jin Fan
Abstract excerpt
NKAP mutations are associated with Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD, MIM: #301039). Here, we elucidate the potential prenatal manifestation of NKAP mutation-associated disorder for the first time, alongside revealing the relationship between NKAP mutations and congenital heart defect (CHD) in the Chinese population. An NKAP mutation (NM_024528.4: c.988C>T,...
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