Annotation Detail
Information
- Associated Genes
- DMD
- Associated Variants
-
DMD MUTATION
DMD MUTATION - Associated Disease
- Congenital ichthyosis
- Source Database
- DisGeNET
- Description
- We report on a family with two affected boys, the elder diagnosed with fragile X syndrome, the younger with DMD, and both suffering from severe ichthyosis.
- Pubmed
- 23574351
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs