10 citations
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January 2011 in “Annals of Dermatology” This case study describes a unique instance of warty dyskeratoma involving two adjacent hair follicles within one lesion.
20 citations
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November 2014 in “Developmental Dynamics” This review explores the similarities between wound healing, palatogenesis, and orofacial clefting, suggesting these processes share common pathways and genetic regulatory mechanisms, but reports no new experimental results.
March 2026 in “Experimental Dermatology” This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.
31 citations
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August 2005 in “The American Journal of Dermatopathology” This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.
28 citations
,
February 2012 in “PLoS ONE” In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.