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      research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants

      6 citations , June 2021 in “˜The œjournal of investigative dermatology/Journal of investigative dermatology”
      This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.
      The Human Keratins: Biology And Pathology

      research The human keratins: biology and pathology

      1398 citations , May 2008 in “Histochemistry and Cell Biology”
      This review summarizes the cell type distribution and functional significance of human keratins, emphasizing their roles in tumor diagnosis and potential clinical applications, and reports no new clinical findings.
      Index

      research Index

      November 2019 in “Harper's Textbook of Pediatric Dermatology”
      This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

      research Skin Development and Disease: A Molecular Perspective

      15 citations , July 2024 in “Current Issues in Molecular Biology”
      This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.