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

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 sequenci...

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Pubblicato in:BMC Pediatr
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8246672/
https://ncbi.nlm.nih.gov/pubmed/34210262
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02774-1
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