A case report of an adolescent with ligase-4 deficiency and the potential dangers of ionizing radiation in this rare patient population

DNA ligase IV deficiency is a rare disorder characterized by mutations in the LIG4 gene. Mutations in this gene cause a wide array of phenotypes, many of which are fatal early in life. We present an adolescent patient with heterozygous LIG4 mutations and the T-B-NK+ DNA ligase IV phenotype. Pelvic u...

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Detalles Bibliográficos
Autores principales: Chadha, Priyal, Thibodeau, Ryan, Jafroodifar, Abtin, Majmudar, Anand
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349749/
https://www.ncbi.nlm.nih.gov/pubmed/34401020
http://dx.doi.org/10.1016/j.radcr.2021.07.002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8349749/
https://www.ncbi.nlm.nih.gov/pubmed/34401020
http://dx.doi.org/10.1016/j.radcr.2021.07.002

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