Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI

Autor:	S. G. Mann, A. V. Poletaev, E.A. Seregina, S. A. Plyasunova, M. A. Kurnikova, D. V. Fedorova, D. M. Polokhov, A.V. Pshonkin, E. V. Raykina, P. A. Zharkov, A. O. Koposova
Rok vydání:	2021
Předmět:	Oncology business.industry Immunology Pediatrics Perinatology and Child Health Thrombocytopathy CALDAG-GEFI Immunology and Allergy Medicine Hematology Signal transduction business Cell biology
Zdroj:	Pediatric Hematology/Oncology and Immunopathology. 20:126-131
ISSN:	2414-9314 1726-1708
DOI:	10.24287/1726-1708-2021-20-3-126-131
Popis:	Hemorrhagic thrombocytopathy with defective signal transduction CalDAG-GEFI is a rare disease associated with a mutation in the RASGRP2 gene. At the moment, this disease is described in 10 person in the world. We present clinical case report of this pathology of a 9-year-old child. We also offer a review of the available literature about pathogenetic features, clinical manifestations and prevalence of this rare disease. The patient’s parents gave their consent to the use of their child’s data, including photographs, for research purposes and in publications.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::0a93bc603c9927c432aedf69721c5b14 https://doi.org/10.24287/1726-1708-2021-20-3-126-131 Zobrazit plný text záznamu