Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand
Abstract
Nine cases of Kabuki syndrome have been identified in Auckland and surrounding regions in the North Island, New Zealand since 1995. All have the characteristic facial dysmorphism and many of the well-described associated anomalies. Some of the abnormalities were unusual including a case with severe congenital mitral stenosis, two cases of eventration of the diaphragm, idiopathic thrombocytopaenic purpura and vitiligo. One child had an Arnold...
Paper Details
Title
Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand
Published Date
Oct 1, 2001
Journal
Volume
10
Issue
4
Pages
257 - 262
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