Infantile ARO is a genetic disorder characterized by osteoclast dysfunction that leads to
osteopetrosis. We describe a novel mutation affecting the OSTM1 locus responsible for …

Sclerosing bone disorders are a diagnostic challenge. However, hereditary sclerosing
disorders often have characteristic radiological features that allow their diagnosis …

Autosomal-recessive osteopetrosis is a severe genetic disease caused by osteoclast failure.
Approximately 50% of the patients harbor mutations of the ATP6i gene, encoding for the …

Type II autosomal dominant osteopetrosis (ADO2), which is the most common form of
osteopetrosis, is caused by heterozygous mutations in the chloride channel 7 (CLCN7) …

Osteopetrosis is a heterogeneous family of rare human genetic disorders due to markedly
decreased bone resorption. It is one among disorders causing osteosclerosis of the …

The osteopetroses are a heterogeneous group of disorders characterised by generalised
bony sclerosis. The autosomal dominant form usually has a “benign” prognosis, in contrast …

Autosomal recessive malignant infantile osteopetrosis (ARO) is characterized by severe
osteosclerosis, pathologic fractures, hepatosplenomegaly, and pancytopenia. The …

Osteopetrosis is a group of genetic bone disorders characterized by increased bone density
and defective bone resorption. Osteopetrosis presents a series of clinical manifestations …

Autosomal recessive osteopetroses (AROs) are rare, genetically heterogeneous skeletal
diseases with increased bone density that are often lethal if left untreated. A precise …

Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by
defective osteoclastic resorption of bone that results in increased bone density. We have …