… The transgenic mice over-expressing osteoprotegerin also have osteopetrosis due to …
findings on human osteopetrosis. The term “osteopetrosis” covers a group of genetic diseases all …

… osteopetrosis phenotypes in both humans and mice [37–40]. TCIRG1 mutations are responsible
for autosomal recessive … Primary sclerosing conditions of bone caused by osteoclast …

… osteopetrosis in which only bone resorption is impaired. In a separate section, an overview
will be given of human osteopetrotic conditions … ) with a diffuse sclerosis and lucent notches …

… diseases, osteopetrosis refers to increased bone mass due to osteoclast failure. In addition
to osteopetrosis, other hereditary disorders … this condition in humans. Osteoclast number is …

Purpose of Review The group of sclerosing bone disorders encompasses a variety of disorders
all marked by increased bone mass. In this review, we give an overview of the genetic …

… Osteopetrosis is a rare sclerosing inherited dysplasia of bone caused by the deficient function
of osteoclasts. At first the disease … However, only four types of human osteopetrosis have …

… disease with malignant osteopetrosis has been considered a distinct entity [8] . Osteopetrosis,
… Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL . Nat …

… Finally, we demonstrated that mutations in the PLEKHM1 gene underlie an intermediate
type of human osteopetrosis in two members of the same family. The clinical outcome in this …

… Human osteopetrosis is a rare genetic disorder … osteopetrosis because it presents with
sclerosis of the distal appendicular skeleton and the skull [18]. It is worth noting that a disease …

… Avian osteopetrosis, although similar to the sclerosis seen in a variety of human diseases,
has not been shown to occur in humans with one possible exception. In “transient …