{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["95"],"submitter":["Dinh H"],"pubmed_abstract":["<h4>Introduction and importance</h4> Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery. <h4>Case presentation</h4> 24-year-old female patient came to us with limp gait, hip p"],"journal":["International journal of surgery case reports"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9178469"],"repository":["biostudies-literature"],"pubmed_title":["Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis"],"pmcid":["PMC9178469"],"pubmed_authors":["Dinh H","Tran T","Nguyen T","Minh T","Luong L","Trung T"],"additional_accession":[]},"is_claimable":false,"name":"Successful total hip arthroplasty for patient with TCIRG1-associated autosomal recessive osteopetrosis","description":"<h4>Introduction and importance</h4> Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of mild osteopetrosis associated with TCIRG1 have been reported recently. In this study we report a rare case of non-malignant TCIRG1-associated osteopetrosis, with detail clinical characterization, genetic analysis and underwent successful total hip replacement surgery. <h4>Case presentation</h4> 24-year-old female patient came to us with limp gait, hip p","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jun","modification":"2025-04-22T08:50:36.128Z","creation":"2025-04-05T22:40:47.386Z"},"accession":"S-EPMC9178469","cross_references":{}}