Rapid Identification of Biallelic SPTB Mutation in a Neonate with Severe Congenital Hemolytic Anemia and Liver Failure

Heterozygous pathogenic variants in SPTB cause autosomal dominant hereditary spherocytosis, an important cause of neonatal nonimmune hemolytic anemia. Biallelic mutations are rarely reported, all with severe neonatal presentation. We describe rapid (68 h) genomic diagnosis of homozygous β-spectrin d...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: Richmond, Christopher M., Campbell, Sally, Foo, Hee W., Lunke, Sebastian, Stark, Zornitza, Moody, Amanda, Bannister, Elizabeth, Greenway, Anthea, Brown, Natasha
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2020
Assuntos:
Novel Insights from Clinical Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7109415/
https://ncbi.nlm.nih.gov/pubmed/32256302
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000505886
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