Annotation Detail
Information
- Associated Genes
- XRCC4
- Associated Variants
-
XRCC4 MUTATION
XRCC4 MUTATION - Associated Disease
- Growth failure
- Source Database
- DisGeNET
- Description
- This finding expands the spectrum of DNA damage repair syndromes to include XRCC4 deficiency causing severe postnatal growth failure, microcephaly, gonadal failure, metabolic syndrome, and possibly tumor predisposition.
- Pubmed
- 25742519
- Section of the abstract supporting the evidence
- CONCLUSIONS
- Number of the section of the abstract supporting the evidence
- 8
- Number of the sentence supporting the evidence
- 13
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs