GATA2 GENE HAPLOINSUFFICIENCY: A CLINICAL AND LABORATORY CHARACTERIZATION OF BRAZILIAN PATIENTS REGISTERED IN GCB-SMD-PED
confounding phenomena such as somatic mosaicism.Accurate identification of germline mutations enables personalized therapeutic strategies, informs prognosis, and supports appropriate genetic counseling.
Authors
- Eduardo Caetano Albino da Silva (ORCID: https://orcid.org/0000-0002-4038-7647)
- Gláucia Regina Costa Murra (ORCID: https://orcid.org/0000-0002-4360-4854)
- Rafael Balceiro
- Luiz Fernando Lopes (ORCID: https://orcid.org/0000-0001-9737-9245)
- Anita Frisanco Oliveira (ORCID: https://orcid.org/0000-0003-2681-9359)
- Neysimélia Costa Villela (ORCID: https://orcid.org/0000-0002-1435-6820)
- Juliana Costa Gaspar
- Guilherme Rodrigues (ORCID: https://orcid.org/0000-0002-1483-6912)
- Samia Fahria
Institutions
- Hospital de Câncer de Barretos (BR)
Publication Details
- Journal
- EJC Paediatric Oncology
- Published
- 2025-11-05
- DOI
- https://doi.org/10.1016/j.ejcped.2025.100371
- Primary Topic
- Hemoglobinopathies and Related Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00