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Article

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

BMC pediatrics - 1 Jul 2021

Wu Ping, Cai Zhe, Jiang Wen-Hui, Lu Gen, Wu Pei-Qiong, Xie Zhi-Wei, Peng Jun-Zheng, Chen Chen, Qi Jun-Ye, Xu Li-Zhen, Shen Kun-Ling, Zeng Hua-Song, Yin Gen-Quan

Abstract excerpt

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 sequencing. CASE PRESENTATION: We present the case of a 4-month-old male infant with abnormal skull development,...

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PMID: 34210262
DOI: 10.1186/s12887-021-02774-1
PMCID: PMC8246672

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