ArticleThe British journal of ophthalmology2001
X linked dominant congenital isolated bilateral ptosis: the definition and characterisation of a new condition.
Article in The British journal of ophthalmology, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
aimsTo characterise the inheritance of ptosis in one particular pedigree.
methodsThe pedigree was analysed clinically and genetically to assess the mode of inheritance and to ascribe a gene locus for the condition.
resultsAffected members of the pedigree have bilateral symmetrical congenital isolated ptosis, a condition which is linked to genetic markers on the X chromosome in this family.
conclusionA pedigree with dominantly inherited congenital bilateral ptosis is presented. The pedigree exhibits X linked dominant inheritance. A new ophthalmic condition was thereby characterised-namely, X linked dominant congenital isolated bilateral ptosis.
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