European Journal of Human Genetics
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European Journal of Human Genetics
@ejhg-journal.bsky.social
The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical, and cytogenetics research
The authors also provide guidelines for managing children with this rare condition to ensure early detection of cancer and management of other health issues.
November 3, 2025 at 8:47 AM
Four children had a cancer which is very rare in childhood, called hepatocellular carcinoma. The cells from these children showed that the DNA repair pathway does not work normally, but why they are so susceptible to liver disease is not known yet.
November 3, 2025 at 8:47 AM
Seven children with a new type of DNA repair disorder caused by changes in the ERCC1 gene were identified in this study. These children had particular problems with liver and kidney function, and three of the children needed a liver transplant.
November 3, 2025 at 8:47 AM
DNA repair disorders are rare conditions where the body’s process to repair damage to DNA does not work properly.
November 3, 2025 at 8:46 AM