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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:BMC Pediatr
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Case Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars