A Mild Case of Autosomal Recessive Osteopetrosis Masquerading as the Dominant Form Involving Homozygous Deep Intronic Variations in the CLCN7 Gene

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9474465/
https://www.ncbi.nlm.nih.gov/pubmed/35618777
http://dx.doi.org/10.1007/s00223-022-00988-8

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