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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Publicado en:BMC Pediatr
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea: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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