Germinal mutation of PDGFRalpha in patient with tuberous sclerosis complex

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.

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

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Other information

Language

English

Type of outcome

Konferenční abstrakt

Field of Study

30200 3.2 Clinical medicine

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

RIV identification code

RIV/00216224:14110/16:00092627

Organization unit

Faculty of Medicine

Keywords in English

tuberous sclerosis complex

Tags

EL OK

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Abstract

V originále

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.