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Case report of mild TCIRG1-associated autosomal recessive osteopetrosis in Vietnam.

American journal of medical genetics. Part A - 1 Oct 2022

Luong Long Hoang, Nguyen Hieu Dinh, Trung Tuyen Nguyen, Minh Tam Mai Thi, Khanh Trinh Le, Son Tung Pham, Tran Tien Dang, Nguyen Tran Thuy

Abstract excerpt

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common 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...

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PMID: 35915932
DOI: 10.1002/ajmg.a.62897

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