Article
LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.
Orphanet journal of rare diseases - 29 May 2020
Sun Bijun, Chen Qiuyu, Wang Ying, Liu Danru, Hou Jia, Wang Wenjie, Ying Wenjing, Hui Xiaoying, Zhou Qinhua, Sun Jinqiao, Wang Xiaochuan
Abstract excerpt
BACKGROUND: DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined immunodeficiency, and malignancy predisposition. There may be a potential association between genotypes and phenotypes. We investigated the characteristics of LIG4...
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