[Dominant epidermolysis bullosa dystrophica of Cockayne-Touraine. Presentation of a familial case and cytogenetic investigation].
Amerio
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Pallotta
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Di Donato
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Dalprà
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D000293:Adolescent; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D004820:Epidermolysis Bullosa / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007621:Karyotyping; D010375:Pedigree; D010641:Phenotype
Epidermolisi bollosa distrofica dominante di Cockayne-Touraine. Presentazione di un caso familiare ed indagine citogenetica.