LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

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. The...

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Detalles Bibliográficos
Autores principales: Sun, Bijun, Chen, Qiuyu, Wang, Ying, Liu, Danru, Hou, Jia, Wang, Wenjie, Ying, Wenjing, Hui, Xiaoying, Zhou, Qinhua, Sun, Jinqiao, Wang, Xiaochuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257218/
https://www.ncbi.nlm.nih.gov/pubmed/32471509
http://dx.doi.org/10.1186/s13023-020-01411-x

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