Identification and Characterization of Mutations in the Gene in a Taiwanese Patient with Infantile Malignant Osteopetrosis

Osteopetrosis is a rare bone disease characterized by an abnormal increase in bone density and a decrease in bone mechanical strength, and comprises a heterogeneous group of disorders.1 Autosomal recessive osteopetrosis (ARO) is the most severe form of osteopetrosis, with the most severe symptom being the lack of bone marrow. An abnormal inward expansion of bone cortex interferes with normal medullary hematopoiesis and causes life-threatening pancytopenia and infection.1
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Brief communication Source Type: research