Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis

Left ventricular hypertrophy is a common entity with a broad differential diagnosis. We present a case of a middle-aged woman with left ventricular hypertrophy and neuropathy caused by a rare transthyretin variant in the absence of a family history or regional reports of hereditary transthyretin amy...

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Detalles Bibliográficos
Autores principales: Chaudhary, Ammar G., AlReefi, Fadi M., Abou Zahr, Riad G., Elzeftawy, Hossam A., Alghamdi, Saleh S., Bushnag, Areej A., Al-Maghrabi, Jaudah A., Abumansour, Iman S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9764124/
https://www.ncbi.nlm.nih.gov/pubmed/36562013
http://dx.doi.org/10.1016/j.cjco.2022.09.005

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