Work

Genetic Landscape of Inherited Bone Marrow Failure Syndromes in Pediatric Mexican Patients: a National Registry Overview

Year: 2025

Type: article

Study design: Observational Study

Abstract: the 4th decade).Routine testing may be insufficient due to overlapping clinical features and confounding phenomena such as somatic mosaicism.Accurate identification of germline mutations enables personalized therapeutic strategies, informs prognosis, and supports appropriate genetic counseling.

Source: EJC Paediatric Oncology

DOI: 10.1016/j.ejcped.2025.100372

Authors: Paula Leal-Anaya, Niu Li, Rocio Juarez, Miguel Hurtado, Blanca Salas, Benilde Garcia, Moises Fiesco, Fernanda Velez, Angelica Monsivais, Renee Barreda, Liliana Fernandez, Anet Rivera, Leda Torres, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Norma Lopez, David Sosa, Sara Frias, Jian Wang, Alfredo Rodriguez

Institutions: Instituto Nacional de Pediatria, Universidad Nacional Autónoma de México, International Peace Maternity & Child Health Hospital, Hospital de Câncer de Barretos

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,340

OpenAlex ID: W4415903344

FWCI:

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