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Underdiagnosed Roifman syndrome manifested as non‐ischaemic cardiomyopathy: a case report

Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their l...

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Detalles Bibliográficos
Autores principales: Xi, Qianlan, Plaza Enriquez, Leidy J., Tanni, Nusrat Uddin, Patsias, Iani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10567627/
https://www.ncbi.nlm.nih.gov/pubmed/37666272
http://dx.doi.org/10.1002/ehf2.14518