CLC proteins comprise Cl− channels and anion/H+ antiporters involved in several
fundamental physiological processes. ClC-7 is a lysosomal Cl−/H+ antiporter that together …

The osteopetroses and related sclerosing bone dysplasias can have a broad range of
manifestations. Especially in the milder forms, sandwich vertebrae are an easily …

Osteopetrosis is a group of genetic bone disorders. Mutations in the chloride channel 7 gene
(CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis …

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton
caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease …

Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized
by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or …

Osteopetrosis is a heritable bone condition featuring increased bone density due to
defective osteoclastic bone resorption. Exome sequencing and Sanger sequencing were …

Abstract Autosomal dominant osteopetrosis (Albers-Schönberg disease) classically displays
the radiographic signs of osteosclerosis. The main ADO complications involve the skeleton …

HSCT is the only curative treatment for MIOP. We prospectively investigated the outcome of
HSCT using intravenous busulfan‐based conditioning regimen from 2008 to 2013. Nineteen …

Abstract Objectives Malignant Infantile Osteopetrosis (MIOP) is a rare inherited disorder with
neurological complications, notably visual impairment and decrease of hearing level …

Osteopetrosis (OP) is hereditary X-linked, autosomal recessive (ARO), or autosomal
dominant (ADO) skeletal disease. ARO has two subtypes, which are infantile malignant and …