Background To date, only twenty-one cases diagnosed postnatally with mosaic trisomy 12
have been reported. The most frequent phenotypic manifestations are developmental delay …

Fanconi anemia (FA) is a rare genetic disorder caused by pathogenic variants (PV) in at
least 22 genes, which cooperate in the Fanconi anemia/Breast Cancer (FA/BRCA) pathway …

Introduction: The inherited bone marrow failure syndromes (IBMFSs) are a group of rare
disorders characterized by bone marrow failure (BMF), physical abnormalities, and an …

Background Fanconi anemia (FA) is a rare genetic disorder associated with hematological
disorders and solid tumor predisposition. Owing to phenotypic heterogeneity, some patients …

Fanconi anemia (FA) is a rare disease occurring in 1-5/million live births. Patients present
chromosomal instability at the cellular level, which is the basis for their diagnosis, and …

Fanconi anemia (FA) occurs due to genomic instability with predisposition to bone marrow
failure, phenotypic abnormalities and cancers. Though mutations in 22 genes leading to …

La anemia de Fanconi (AF) es una enfermedad rara, se presenta en 1-5/millón de nacidos
vivos. A nivel celular presentan inestabilidad cromosómica, que es la base para su …

Fanconi Anemia (FA) is an autosomal recessive disorder characterized by diverse clinical
manifestations such as aplastic anemia, cancer predisposition, and developmental defects …

A founder variant is a pathogenic variant observed at high frequency in a specific population
due to the presence of the variant in a single ancestor or small number of ancestors. The …

Fanconi anemia (FA) is a genetic disorder that results in bone marrow failure if not treated by
hematopoietic stem cell transplant (HSCT). However, post-transplant FA patients face a high …