A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing

Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hype...

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Bibliografische gegevens
Gepubliceerd in:J Atheroscler Thromb
Hoofdauteurs: Tada, Hayato, Kawashiri, Masa-aki, Okada, Hirofumi, Endo, Saori, Toyoshima, Yuka, Konno, Tetsuo, Nohara, Atsushi, Inazu, Akihiro, Takao, Akira, Mabuchi, Hiroshi, Yamagishi, Masakazu, Hayashi, Kenshi
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Japan Atherosclerosis Society 2016
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7399263/
https://ncbi.nlm.nih.gov/pubmed/27170062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5551/jat.34827
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