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

• Main Authors: Aidé Tamara Staines Boone (Author), Ivan K. Chinn (Author), Carmen Alaez-Versón (Author), Marco A. Yamazaki-Nakashimada (Author), Karol Carrillo-Sánchez (Author), María de la Luz Hortensia García-Cruz (Author), M. Cecilia Poli (Author), M. Edith González Serrano (Author), Edgar A. Medina Torres (Author), David Muzquiz Zermeño (Author), Lisa R. Forbes (Author), Francisco J. Espinosa-Rosales (Author), Sara E. Espinosa-Padilla (Author), Jordan S. Orange (Author), Saul Oswaldo Lugo Reyes (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...