Making the invisible visible

Maurice A. M. van Steensel (Lead / Corresponding author)

    Research output: Contribution to journalBook/Film/Article reviewpeer-review

    2 Citations (Scopus)
    250 Downloads (Pure)


    In this review, I will discuss how careful scrutiny of genetic skin disorders could help us to understand human biology. Like other organs, the skin and its appendages, such as hairs and teeth, experience fundamental biological processes ranging from lipid metabolism to vesicular transport and cellular migration. However, in contrast to other organ systems, they are accessible and can be studied with relative ease. By visually revealing the functional consequences of single gene defects, genetic skin diseases offer a unique opportunity to study human biology. Here, I will illustrate this concept by discussing how human genetic disorders of skin pigmentation reflect the mechanisms underlying this complex and vital process.

    Original languageEnglish
    Pages (from-to)58-65
    Number of pages8
    JournalSeminars in Cell & Developmental Biology
    Early online date10 Feb 2016
    Publication statusPublished - 1 Apr 2016


    • Skin
    • Genodermatosis
    • Genetic
    • Pigment
    • Pigmentation

    ASJC Scopus subject areas

    • Developmental Biology
    • Cell Biology


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