Publication details
Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex
| Authors | |
|---|---|
| Year of publication | 2016 |
| Type | Conference abstract |
| MU Faculty or unit | |
| Citation | |
| Description | We are presenting the case report of 9 year old boy with tuberous sclerosis complex. Within that he has angiomyolipomas of kidneys, bilateral hamartomas of retina, pharmacoresistant epilepsy, hypothyreosis. 11/2014 he was diagnosed with malignant PEComa in the abdominal cavity with the residual disease after the surgery. |