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Exon sequencing of the alpha-2-globin gene for the differential diagnosis of central cyanosis in newborns: a case report
BACKGROUND: Cyanosis is usually associated with serious conditions requiring urgent treatment in the neonatal intensive care unit (NICU). Hemoglobin M (Hb M) disease is one type of congenital methemoglobinemia characterized by cyanosis. Among these variants, α-globin chain mutations such as Hb M Bos...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6607536/ https://www.ncbi.nlm.nih.gov/pubmed/31269924 http://dx.doi.org/10.1186/s12887-019-1601-9 |