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  1. No Access

    Article

    Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis

    Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are 5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV infections are typically asymp...

    Vivien Béziat in Human Genetics (2020)

  2. Article

    Open Access

    Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

    The telomere biology disorders (TBDs) include a range of multisystem diseases characterized by mucocutaneous symptoms and bone marrow failure. In dyskeratosis congenita (DKC), the clinical features of TBDs ste...

    Luca Trotta, Anna Norberg, Mervi Taskinen… in Orphanet Journal of Rare Diseases (2018)

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    Article

    Human hyper-IgE syndrome: singular or plural?

    Spectacular progress has been made in the characterization of human hyper-IgE syndrome (HIES) over the last 50 years. HIES is a primary immunodeficiency defined as an association of atopy in a context of very ...

    Qian Zhang, Bertrand Boisson, Vivien Béziat, Anne Puel… in Mammalian Genome (2018)