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

Wu, P; Cai, Z; Jiang, WH; Lu, G; Wu, PQ; Xie, ZW; Peng, JZ; Chen, C; Qi, JY; Xu, LZ; Shen, KL; Zeng, HS; Yin, GQ

Yin, GQ (corresponding author), Guangzhou Med Univ, Guangzhou Women & Childrens Med Ctr, Dept Respirol, Guangzhou 510120, Guangdong, Peoples R China.

BMC PEDIATRICS, 2021; 21 (1):

Abstract

Background Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused ......

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