Article

A case of autosomal dominant osteopetrosis type II with a severe bone phenotype but no amino acid converting mutation in the <i>CLCN7</i> gene

2021-07-10

Abstract excerpt

<h4>ABSTRACT</h4> Autosomal Dominant Osteopetrosis type II (ADOII), also known as Albers-Schönberg disease, is caused by mutation of the CLCN7 chloride channel gene and is characterized by reduced bone resorption. Here we report on an individual with the classic features of ADOII, who had a history of fractures from childhood, displayed high bone mass and characteristic “sandwich vertebrae” on x-ray. Our genetic a...

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Literature Corpus work: 056d97ba-8591-560f-bb4e-7f99a5bcbe02
DOI: 10.1101/2021.07.08.21257202

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