Context Autosomal dominant osteopetrosis (ADO) is a rare genetic disorder resulting from
impaired osteoclastic bone resorption. Clinical manifestations frequently include fractures …

Osteopetrosis is a rare genetic disorder characterized by increased bone mineral density
(BMD) due to osteoclast failure. T-cell immune regulator 1 (TCIRG1) plays crucial roles on …

Osteopetrosis is a monogenic condition with various inheritance patterns, including
autosomal dominant, autosomal recessive and X‑linked. Several disease‑causing genes …

Autosomal recessive osteopetrosis (ARO) is a rare genetic bone disease with genotypic and
phenotypic heterogeneity, sometimes translating into delayed diagnosis and treatment. In …

Background Osteopetrosis is characterized by increased bone density and bone marrow
cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their …

Osteopetrosis is a rare and heterogeneous genetic disorder characterized by dense bone
mass that is a consequence of defective osteoclast function and/or development. Autosomal …

Autosomal recessive osteopetrosis (ARO) is a severe genetic bone disease characterized
by high bone density due to mutations that affect formation or function of osteoclasts …

Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are
responsible for more than 50% of cases of human malignant autosomal recessive …

Osteopetrosis is a heritable bone disorder that exhibits highly clinical and genetical
heterogeneity, and is caused by defective osteoclastic resorption. The three main forms are …

Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant
osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell …