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A de novo ANK1 mutation in a childhood hereditary spherocytosis: a case report

BACKGROUND: Due to the heterogeneity of the phenotype of Hereditary spherocytosis (HS) patients, some patients may have rare clinical complications such as biliary obstruction and ultra-high bilirubinemia. CASE PRESENTATION: A 8-y-old boy presented to the emergency with complaints of anemia for 6 ye...

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Detalles Bibliográficos
Autores principales: Wang, Yafeng, Liu, Linlin, Liu, Dandan, Liu, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226236/
https://www.ncbi.nlm.nih.gov/pubmed/37246216
http://dx.doi.org/10.1186/s12887-023-04092-0