Article

LIG4 Syndrome: Clinical and Molecular Characterization in a Chinese Cohort

2020-03-17

Abstract excerpt

<h4>Background: </h4> 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 is thought to be a potential association between genotypes and phenotypes. Here, we investigated the cha...

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Literature Corpus work: 32521488-839f-5af8-8665-3c0eca19cbf8
DOI: 10.21203/rs.3.rs-17456/v1

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