Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature

DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, ment...

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Detalles Bibliográficos
Autores principales: Staines Boone, Aidé Tamara, Chinn, Ivan K., Alaez-Versón, Carmen, Yamazaki-Nakashimada, Marco A., Carrillo-Sánchez, Karol, García-Cruz, María de la Luz Hortensia, Poli, M. Cecilia, González Serrano, M. Edith, Medina Torres, Edgar A., Muzquiz Zermeño, David, Forbes, Lisa R., Espinosa-Rosales, Francisco J., Espinosa-Padilla, Sara E., Orange, Jordan S., Lugo Reyes, Saul Oswaldo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348249/
https://www.ncbi.nlm.nih.gov/pubmed/30719430
http://dx.doi.org/10.3389/fped.2018.00426

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