Informace o publikaci

Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex

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ZAPLETALOVÁ Danica MELICHÁRKOVÁ Kristýna ŠTĚRBA Jaroslav

Rok publikování 2016
Druh Konferenční abstrakty
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
Popis 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.