Distinct Developmental Outcomes in DNA repair-deficient FANCC c.67delG Mutant and FANCC-/- Mice

Abstract excerpt

<title>Abstract</title> <p>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 d...

Topics

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• Disease Models, Animal
• DNA Repair
• Fanconi Anemia
• Mice
• Mice, Knockout
• Mitochondria
• Mitophagy
• Phenotype

Identifiers and source

Literature Corpus work

40e2ac0d-1430-5db9-b1be-cc001a1f5743

DOI

10.21203/rs.3.rs-4921572/v1