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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene

Fig. 3

Clinical photographs of patient 2 showing bilateral ankle (a), patellar tendon (b) and triceps tendon (c) xanthomas. Photographs of patient 5 that the left (d) and bilateral ankle (h) demonstrating the fusiform swelling caused by the xanthomas. Clinical photographs in the patient 3 that showing xanthoma in the right (e) and left (f) patellar tendon as well as multiple xanthomas in the bilateral Achilles tendons (g). Photographs of patient 7 (i) and patient 6 showing Achilles tendons xanthomas (j) and foot deformities (k)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172