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Inherited bone marrow failure syndromes: phenotype as a tool for early diagnostic suspicion at a major reference center in Mexico

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare disorders characterized by bone marrow failure (BMF), physical abnormalities, and an increased risk of neoplasia. The National Institute of Pediatrics (INP) is a major medical institution in Mexico, where patients...

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Principais autores: Paula Leal-Anaya, Tamara N. Kimball, Ana Lucia Yanez-Felix, Moisés Ó. Fiesco-Roa, Benilde García-de Teresa, Angélica Monsiváis, Rocío Juárez-Velázquez, Esther Lieberman, Camilo Villarroel, Emiy Yokoyama, Liliana Fernández-Hernández, Anet Rivera-Osorio, David Sosa, Maria Magdalena Ortiz Sandoval, Norma López-Santiago, Sara Frías, Victoria del Castillo, Alfredo Rodríguez
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2024-01-01
Serier:Frontiers in Genetics
Fag:
inherited bone marrow failure syndrome
dyskeratosis congenita
Diamond–Blackfan anemia
Shwachman–Diamond syndrome
thrombocytopenia with absent radii
severe congenital neutropenia
Online adgang:https://www.frontiersin.org/articles/10.3389/fgene.2023.1293929/full
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