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Bullous Congenital Ichthyosiform Erythroderma: A Sporadic Case Produced by a New KRT10 Gene Mutation
Pediatric Dermatology, 08/14/09
Betlloch I et al. – The authors report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported.
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