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Features of Individual 1, with the p.Leu610Pro DDR2 Variant
(A–C) Panels A–C show facial features, including a long philtrum, a short nose, a thin upper vermilion, midface retrusion, and narrow nostrils.
(D) Panel D shows mild cutaneous acquired syndactyly of fingers 3 and 4 and flexion contractures.
(E) Panel E shows corneal vascularization at age 54 years and development of complete corneal conjunctivalization and symblepharon formation.
