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...

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Pubblicato in:BMC Pediatr
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Case Report
Accesso online: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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