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...

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Detalles Bibliográficos
Autores principales: Ventura-Espejo, Laura, Gracia-Darder, Inés, Escribá-Bori, Silvia, Amador-González, Eva Regina, Martín-Santiago, Ana, Ramakers, Jan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
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

Internet

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

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