A de novo ANK1 mutation associated to hereditary spherocytosis: a case report

BACKGROUND: Hereditary spherocytosis (HS) is a type of hemolytic anemia caused by abnormal red cell membrane skeletal proteins with few unique clinical manifestations in the neonate and infant. An ANK1 gene mutation is the most common cause of HS. CASE PRESENTATION: The patient was a 11-month-old bo...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Pediatr
Prif Awduron: Huang, Ti-Long, Sang, Bao-Hua, Lei, Qing-Ling, Song, Chun-Yan, Lin, Yun-Bi, Lv, Yu, Yang, Chun-Hui, Li, Na, Yang, Yue-Huang, Zhang, Xian-Wen, Tian, Xin
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6379977/
https://ncbi.nlm.nih.gov/pubmed/30777044
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-019-1436-4
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