Spherocytosis in Newborn Secondary to Novel Heterozygous Mutation in SPTB Gene: Case Report

This case report describes a novel mutation of the SPTB gene as a potential pathogenic cause of spherocytosis. A 3-week-old male presented with clinical and laboratory signs consistent with hemolytic spherocytosis, including jaundice, hyperbilirubinemia, anemia, reticulocytosis, negative Coombs test...

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Detalles Bibliográficos
Autores principales: Varadi, Daphna, Caplan, Benjamin, Scarano, Maria, Ahmed, Rafat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272686/
https://www.ncbi.nlm.nih.gov/pubmed/37306287
http://dx.doi.org/10.1177/23247096231180552

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10272686/
https://www.ncbi.nlm.nih.gov/pubmed/37306287
http://dx.doi.org/10.1177/23247096231180552

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