Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome
Abstract
Purpose In 2006 Warburg et al. described a patient with blepharophimosis, corneal vascularization, retinal degeneration, deafness, loss of subcutanous tissue, flexion contractures of the fingers and acro‐osteolysis. Some years later Cinotti et al. reported a similar patient. In addition, we identified tree individuals from two different families with a similar clinical picture. In total, all six individuals from four different families were...
Paper Details
Title
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome
Published Date
Dec 1, 2019
Journal
Volume
97
Issue
S263
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