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  • FANCD2
  • Now, Peter Schl√∂gelhofer's group at the University of Vienna, in collaboration with groups across Europe and the U.S., have used a model plant to investigate the role of a key protein, Fanconi anemia D2 protein (FANCD2), in a system where they can examine its function in germ cells. (eurekalert.org)
  • bone
  • Fanconi anemia (FA) is an inherited bone marrow failure syndrome characterized by pancytopenia, predisposition to malignancy, and physical abnormalities including short stature, microcephaly, developmental delay, caf√©-au-lait skin lesions, and malformations belonging to the VACTERL-H association. (uptodate.com)
  • A type of idiopathic refractory anemia characterized by pancytopenia, hypoplasia of the bone marrow, and congenital anomalies, occurring in members of the same family. (dictionary.com)
  • syndrome
  • This is in contrast to Diamond-Blackfan anemia, which affects only erythrocytes, and Shwachman-Diamond syndrome, which primarily causes neutropenia. (wikipedia.org)
  • It is also know as Diamond Blackfan Anemia/Syndrome. (dmoztools.net)
  • patients
  • Combination of lipoic acid and N-acetylcysteine can stabilize the DNA of blood cells from Fanconi anemia (FA) patients, says study published in Rare Diseases. (medindia.net)
  • FANCC(-/-) mutant male and female mice have compromised gametogenesis, leading to markedly impaired fertility, a characteristic of Fanconi anemia patients. (wikipedia.org)
  • phenotype
  • Such conditions, it is argued, are readily distinguishable from genetic diseases associated with increased mortality, but not associated with an aging phenotype, such as cystic fibrosis and sickle cell anemia. (wikipedia.org)
  • This and further analysis revealed the mouse phenotype to model the human genetic illness, Fanconi anemia. (wikipedia.org)