Article
Distinct developmental outcomes in DNA repair-deficient FANCC c.67delG mutant and FANCC-/- Mice.
Cell death and differentiation - 1 Jul 2025
Beesetti Swarna, Guy Cliff, Sirasanagandla Shyam, Yang Mao, Sumpter Rhea Jr, Sheppard Heather, Pelletier Stephane, Wlodarski Marcin W, Green Douglas R
Abstract excerpt
Fanconi Anemia (FA) is an autosomal recessive disorder characterized by diverse clinical manifestations such as aplastic anemia, cancer predisposition, and developmental defects including hypogonadism, microcephaly, organ dysfunction, infertility, hyperpigmentation, microphthalmia, and skeletal defects. In addition to the well-described defects in DNA repair, mitochondrial dysfunction due to defects in...
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