LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

Abstract 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 predisposit...

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Bibliographic Details
Main Authors: Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun, Xiaochuan Wang
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Orphanet Journal of Rare Diseases
Subjects:
DNA ligase IV syndrome
Microcephaly
Inflammatory bowel disease
Immunodeficiency
Genetic testing
Online Access:http://link.springer.com/article/10.1186/s13023-020-01411-x

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