Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.
作者： A Smith , I S Fraser , R P Shearman , P Russell
DOI: 10.1136/JMG.26.7.434
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摘要: We describe four females from three families with blepharophimosis, epicanthus inversus, and ptosis who were found to have premature ovarian failure. In two the inheritance was autosomal dominant in one it a new mutation. Two had, addition, dysmorphic facial features which been described other cases. suggest that aetiology of blepharophimosis failure syndrome is contiguous gene syndrome.
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