ZAPLETALOVÁ, Danica, Kristýna MELICHÁRKOVÁ and Jaroslav ŠTĚRBA. Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex. In CAC2 (Coalition Against Childhood Cancer) Research Conference 2016, Cold Spring Harbor. 2016.
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Basic information
Original name Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex
Authors ZAPLETALOVÁ, Danica (703 Slovakia, guarantor, belonging to the institution), Kristýna MELICHÁRKOVÁ (203 Czech Republic, belonging to the institution) and Jaroslav ŠTĚRBA (203 Czech Republic, belonging to the institution).
Edition CAC2 (Coalition Against Childhood Cancer) Research Conference 2016, Cold Spring Harbor, 2016.
Other information
Original language English
Type of outcome Conference abstract
Field of Study 30200 3.2 Clinical medicine
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
RIV identification code RIV/00216224:14110/16:00092627
Organization unit Faculty of Medicine
Keywords in English tuberous sclerosis complex
Tags EL OK
Changed by Changed by: Ing. Mgr. Věra Pospíšilíková, učo 9005. Changed: 4/1/2017 12:05.
Abstract
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.
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