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Confirmation of the Yemenite (Warburg) deaf-blind hypopigmentation syndrome
1Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
American Journal of Medical Genetics
|October 16, 1996
Abstract:
The Yemenite deaf-blind hypopigmentation syndrome is a rare disorder characterized by severe early hearing loss, microcornea and colobomata, and cutaneous pigmentation abnormalities. A girl with similar skin symptoms and hearing loss, but no microcornea or colobomata is described and compared to other reported patients.