Malignant infantile osteopetrosis.
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ABSTRACT:
SUBMITTER: Kumar KJ
PROVIDER: S-EPMC3722638 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Publications
Malignant infantile osteopetrosis.
Kumar Kalenahalli Jagadish KJ Bandaru Kasi K Prashanth Sathya Narayana SN Mamatha Sangaraju S
Indian journal of human genetics 20130101 1
Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities wit ...[more]
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