Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of
hematological abnormalities and congenital anomalies. Based on multilateral efforts from …

Establishing a diagnosis of aplastic anemia (AA) can be challenging, but it is absolutely
critical to appropriate management, especially differentiating between acquired and …

Bone marrow (BM) failure (BMF) in children and young adults is often suspected to be
inherited, but in many cases diagnosis remains uncertain. We studied a cohort of 179 …

Fanconi anemia (FA) patients experience chromosome instability, yielding hematopoietic
stem/progenitor cell (HSPC) exhaustion and predisposition to poor-prognosis myeloid …

Fanconi anemia (FA) is a DNA repair syndrome generated by mutations in any of the 22 FA
genes discovered to date,. Mutations in FANCA account for more than 60% of FA cases …

Fanconi anemia (FA) is an inherited DNA repair deficiency syndrome. FA patients undergo
progressive bone marrow failure (BMF) during childhood, which frequently requires …

Somatic mosaicism refers to the occurrence of two genetically distinct populations of cells
within an individual, derived from a postzygotic mutation. In contrast to inherited mutations …

Cells employ potentially mutagenic DNA repair mechanisms to avoid the detrimental effects
of chromosome breaks on cell survival. While classical non‐homologous end‐joining …

Fanconi anemia (FA) is the most frequent inherited cause of BM failure (BMF). Fifteen FANC
genes have been identified to date, the most prevalent being FANCA, FANCC, FANCG, and …

Somatic mosaicism is well known in disorders where the manifestations are readily seen, eg
the skin in neurofibromatosis I. In single gene disorders of higher frequency, especially X …