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Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human

✍ Scribed by Chalhoub, Nader; Benachenhou, Nadia; Rajapurohitam, Venkatesh; Pata, Monica; Ferron, Mathieu; Frattini, Annalisa; Villa, Anna; Vacher, Jean


Book ID
109933245
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
527 KB
Volume
9
Category
Article
ISSN
1078-8956

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## Communicated by Arnold Munnich Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia. The pathophysiological basis is inadequate bone resorption due to osteoclast dysfunction. In the major