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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Detalles Bibliográficos
Autores principales: Tada, Hayato, Inaba, Syota, Pozharitckaia, Daria, Kawashiri, Masa-aki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938503/
https://www.ncbi.nlm.nih.gov/pubmed/29269672
http://dx.doi.org/10.2169/internalmedicine.9687-17

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5938503/
https://www.ncbi.nlm.nih.gov/pubmed/29269672
http://dx.doi.org/10.2169/internalmedicine.9687-17

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