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@proceedings{1366434, author = {Zapletalová, Danica and Melichárková, Kristýna and Štěrba, Jaroslav}, booktitle = {CAC2 (Coalition Against Childhood Cancer) Research Conference 2016, Cold Spring Harbor}, keywords = {tuberous sclerosis complex}, language = {eng}, title = {Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex}, year = {2016} }
TY - CONF ID - 1366434 AU - Zapletalová, Danica - Melichárková, Kristýna - Štěrba, Jaroslav PY - 2016 TI - Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex KW - tuberous sclerosis complex N2 - 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. ER -
ZAPLETALOVÁ, Danica, Kristýna MELICHÁRKOVÁ and Jaroslav ŠTĚRBA. Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex. In \textit{CAC2 (Coalition Against Childhood Cancer) Research Conference 2016, Cold Spring Harbor}. 2016.
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