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. 2021 Jan 15;30(1):72–77. doi: 10.1093/hmg/ddab014

Figure 1.

Figure 1

Clinical pictures of patients with activating Asn666 variants. Panel A: OPDKD and panel B: Penttinen syndrome. A1–3: corneal vascularization and tissue ingrowth of OPDKD individuals III-1, II-2 and II-1. The lesions presented early in life and progressed rapidly. A4–7: skin lesions with keloid formation on fingers starting from around 20 years of age. Later on, multiple fibromas and keloids on toes developed. B1–4 illustrates corneal neovascularization, malformed fingers, lipodystrophy and chronic ulcers on the feet of a patient with severe Penttinen syndrome.