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J Appl Genet ; 61(4): 559-565, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32964316

RESUMO

Intracardiac tumors in children are relatively rare, but their clinical consequences may include severe outflow tract obstruction, embolism, cardiac insufficiency, or rhythm disturbances. In some cases, the tumor may constitute part of a genetic condition and prompt additional investigations, as well as a modification of therapeutic management. Herein, we present a molecularly confirmed familial case of Gorlin syndrome with an early cardiac tumor as a presenting sign. We provide detailed clinical characteristics of the affected individuals and a useful review of syndromic causes of pediatric cardiac tumors in clinical practice.


Assuntos
Síndrome do Nevo Basocelular/genética , Fibroma/genética , Neoplasias Cardíacas/genética , Receptor Patched-1/genética , Adulto , Síndrome do Nevo Basocelular/patologia , Criança , Feminino , Fibroma/patologia , Neoplasias Cardíacas/patologia , Humanos , Masculino , Sequenciamento do Exoma
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