Clinical feature: 

Definition: Osteopetrosis is an inborn error of skeletal development and regulation of bone formation and resorption which results in generalized sclerosis and hardening of the bone. Because this process drives out the bone marrow, anaemia and extra-medullar haematopoiesis results, also splenomegaly.

Literature: 

Schmitz G et al. (2006) Pharmacogenomics of cholesterol-lowering therapy.
Teitelbaum SL et al. (2003) Genetic regulation of osteoclast development and function.
Helfrich MH et al. (2003) Osteoclast diseases.
Kocher MS et al. (2003) Osteopetrosis.
Van Hul W et al. () Recent progress in the molecular genetics of sclerosing bone dysplasias.
Pangrazio A et al. (2006) Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
Kornak U et al. (2006) Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II.
Chu K et al. (2005) Analysis of variation in expression of autosomal dominant osteopetrosis type 2: searching for modifier genes.
Shah GN et al. (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation.
Susani L et al. (2004) TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Mohn A et al. (2004) Autosomal malignant osteopetrosis. From diagnosis to therapy.
Kasow KA et al. (2004) Malignant infantile osteopetrosis and primary pulmonary hypertension: a new combination?