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Identification of Novel Mutation in Autosomal Recessive Infantile Malignant Osteopetrosis

✍ Scribed by Siddaiahgari, Sirisha Rani; Makadia, Darshak; Shah, Nikit; Devi, Radha Rama; Lingappa, Lokesh

Book ID: 125378204
Publisher: Springer-Verlag
Year: 2013
Tongue: English
Weight: 94 KB
Volume: 81
Category: Article
ISSN: 0019-5456
DOI: 10.1007/s12098-013-1250-1

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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