Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report

• Main Authors: Ping Wu (Author), Zhe Cai (Author), Wen-Hui Jiang (Author), Gen Lu (Author), Pei-Qiong Wu (Author), Zhi-Wei Xie (Author), Jun-Zheng Peng (Author), Chen Chen (Author), Jun-Ye Qi (Author), Li-Zhen Xu (Author), Kun-Ling Shen (Author), Hua-Song Zeng (Author), Gen-Quan Yin (Author)
• Formato: Livro
• Publicado em: BMC, 2021-07-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

Abstract Background Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinically, IMO can be diagnosed with medical examination, bone mineral density test and whole genome...