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

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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Bibliographic Details
Main Authors: Priyal Chadha, BA, Ryan Thibodeau, MD, MPH, Abtin Jafroodifar, MD, Anand Majmudar, MD
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:Radiology Case Reports
Subjects:
Ligase 4 deficiency
LIG4 mutation
Radiosensitivity
Magnetic resonance imaging
ultrasound
hypergonadotrophic hypogonadism
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043321004738

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http://www.sciencedirect.com/science/article/pii/S1930043321004738

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