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Diagnosis of a rare fetal haemoglobinopathy in the age of next-generation sequencing
Neonatal cyanosis resulting from a fetal methaemoglobin variant is rare. Most such variants are only described in a few published case reports. We present the case of a newborn with unexplained persistent cyanosis, ultimately determined to have a γ-chain mutation causing Hb FM-Fort Ripley. This neon...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4840678/ https://ncbi.nlm.nih.gov/pubmed/27095814 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-215193 |
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