eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | kennedy disease |
| Comorbidity | C0039585|androgen insensitivity syndrome |
| Sentences | 5 |
| PubMedID- 22799610 | Of the 16 spice site variations reported in various ethnic groups, this is a novel variation in the ar gene to be associated with androgen insensitivity syndrome. |
| PubMedID- 21462130 | Conclusion: a novel mutation glu441stop (gaa to taa) of the androgen receptor gene leading to complete androgen insensitivity syndrome was identified in this study in a chinese patient. |
| PubMedID- 24023855 | To this end, we performed large scale array-based analysis of gene methylation profiles on genomic dna from labioscrotal skin fibroblasts of 8 males and 26 individuals with androgen insensitivity syndrome (ais) due to inactivating androgen receptor gene mutations. |
| PubMedID- 25997614 | A novel insa2933 causes premature termination of translation and is accompanied by overexpression of truncated androgen receptor gene in a patient with complete androgen insensitivity syndrome. |
| PubMedID- 22608796 | Novel androgen receptor gene mutation in patient with complete androgen insensitivity syndrome. |
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