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Patient with H syndrome, cardiogenic shock, multiorgan infiltration, and digital ischemia
ABSTRACT: BACKGROUND: H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic sign of HS is cutaneous hyperpigmentation locat...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243620/ https://www.ncbi.nlm.nih.gov/pubmed/34193201 http://dx.doi.org/10.1186/s12969-021-00586-2 |