Albers-Schonberg disease


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Related to Albers-Schonberg disease: Albers-Schönberg disease
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It is also known as "marble bone disease" or Albers-Schonberg disease after the German radiologist who first described the condition and radiological findings in 1904 (2-4).
It was first described in 1904 by a German radiologist Albers-Schonberg [1]; hence, the disease also gets the name Albers-Schonberg disease. Osteopetrosis is classified into three forms as autosomal recessive, autosomal dominant, and X-linked inheritance.
Osteopetrosis (Albers-Schonberg disease) is a hereditary disease, manifesting during childhood (autosomal-recessive form) or adolescence (autosomal-dominant form).
Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene.
Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.