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 located...
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BMC,
2021-06-01T00:00:00Z.
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