Article
A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene.
Calcified tissue international - 1 Oct 2022
Hofstaetter Jochen G, Atkins Gerald J, Kato Hajime, Kogawa Masakazu, Blouin Stéphane, Misof Barbara M, Roschger Paul, Evdokiou Andreas, Yang Dongqing, Solomon Lucian B, Findlay David M, Ito Nobuaki
Abstract excerpt
Osteopetrosis is a heterogeneous group of rare hereditary diseases characterized by increased bone mass of poor quality. Autosomal-dominant osteopetrosis type II (ADOII) is most often caused by mutation of the CLCN7 gene leading to impaired bone resorption. Autosomal recessive osteopetrosis (ARO) is a more severe form and is frequently accompanied by additional morbidities. We report an adult male presenting with...
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