The expanding clinical phenotype of the
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Feigenbaum, Annette; Chitayat, David; Robinson, Brian; MacGregor, Daune; Myint,
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Article
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1996
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John Wiley and Sons
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English
β 16 KB
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We describe a family which demonstrates and expands the extreme clinical variabilty now known to be associated with the A+G transition at nucleotide position 3243 of the mitochondrial DNA. The propositus presented at birth with clinical manifestations consistent with diabetic embryopathy including a