viernes, 29 de mayo de 2020

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort | Orphanet Journal of Rare Diseases | Full Text

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort | Orphanet Journal of Rare Diseases | Full Text

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...
Authors:Bijun Sun, Qiuyu Chen, Ying Wang, Danru Liu, Jia Hou, Wenjie Wang, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Jinqiao Sun and Xiaochuan Wang
Citation:Orphanet Journal of Rare Diseases 2020 15:131
Content type:Research
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