81 research outputs found
Exposing the human nude phenotype [4]
Peer reviewedSubmitted Versio
Maternal Germline Mosaicism in Dominant Dystrophic Epidermolysis Bullosa
3 páginas, 1 figura.Here, we report a family with one child affected by mild DEB. At birth, blistering and denuded areas were present together with the syndactyly of the second and third toes. By the age of 11 mo, blistering was significantly reduced but the blisters healed with hyperpigmented and hypopigmented scars and milia. Both parents and an older sibling were clinically unaffected, and there was no family history of consanguinity or of a blistering disorder or skin fragility.Peer reviewe
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