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Prominent Tendon Xanthomas and Abdominal Aortic Aneurysm Associated with Cerebrotendinous Xanthomatosis Identified Using Whole Exome Sequencing

A 63-year-old man was hospitalized due to an abdominal pulsatile mass. Computed tomography revealed a saccular type abdominal aortic aneurysm, the diameter of which was 52 mm. A physical examination revealed prominent Achilles tendon thickness and plantar xanthomas. He was born in a family of consan...

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Bibliografiske detaljer
Udgivet i:Intern Med
Main Authors: Tada, Hayato, Inaba, Syota, Pozharitckaia, Daria, Kawashiri, Masa-aki
Format: Artigo
Sprog:Inglês
Udgivet: The Japanese Society of Internal Medicine 2017
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5938503/
https://ncbi.nlm.nih.gov/pubmed/29269672
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.9687-17
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