Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
From the nature.com
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
From the nature.com
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man.
From the nature.com
Sarkis became legally blind as a young child after osteopetrosis damaged his optic nerve.
From the ocregister.com
Genotype-phenotype relationship in human ATP6i-dependent autosomal recessive osteopetrosis.
From the nature.com
Osteopetrosis is a condition of pathologically high bone mass.
From the nature.com
A mutation in the same gene was associated with disease in a human patient with osteopetrosis.
From the sciencedaily.com
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human.
From the nature.com
However, recent observations showed different histological aspects in osteoclast-rich and osteoclast-poor osteopetrosis.
From the nature.com
More examples
An inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
Osteopetrosis, literally "stone bone", also known as marble bone disease and Albers-Schonberg disease is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more ...
Rare, hereditary disease in which the bones are too dense. Common symptoms include bone pain and fractures. Retinal degeneration may occur; it results in vision loss.
A hereditary bone disorder marked by a failure of the osteoclasts to resorb bone, resulting in increased bone mass of inferior quality. Symptoms include bone pain, bone fractures (which have difficulty healing), and degenerative arthritis. [See: Fluoride & Osteopetrosis ]
Thickening of the bones which become abnormally dense due an inherited defect in bone resorption -- the process in which old bone is broken down and removed so that new bone can be added to the skeleton. Osteoclasts are the cells responsible for bone resorption. ...
Abnormal thickening, hardening, and fragility of bones, making them weaker.