PedAM
Pediatric Disease Annotations & Medicines
| Disease | albinism |
| Phenotype | C0155550|neural deafness |
| Sentences | 2 |
| PubMedID- 22666340 | Tbl1 was identified as a causative factor for a human age-related hearing disorder called ocular albinism with late-onset sensory neural deafness (oasd) [13], [17]. |
| PubMedID- 26070712 | Tbl1 was originally cloned in relationship to an x-linked human disorder, ocular albinism with late-onset sensorineural deafness (oasd), in which deletion of tbl1 was suggested to be responsible for the hearing defect (bassi et al, 1999). |
Page: 1