Search Results - "Dias, Joana Valente"

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    Anogenital condylomata acuminata in young children: not always result of sexual transmission by Dias, Joana Valente, Gomes, Sónia, Afonso, Helga, Teles, Rita

    Published in BMJ case reports (05-12-2022)
    “…Condylomata acuminata lesions, commonly known as anogenital warts, are caused by human papillomavirus and manifest as flesh-coloured or hyperpigmented papules…”
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    Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit by Dias, Joana Valente, Cardoso, Kátia, Prado, Sara Noéme, Cavaco, Hugo

    Published in BMJ case reports (28-02-2023)
    “…Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We…”
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    TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis by Dias, Joana Valente, Carvalho, Ana Araújo, Freixo, João Parente, Antunes, Diana, Martins, Ana Antunes, Painho, Teresa, Jacinto, Sandra

    Published in Pediatric neurology (01-10-2023)
    “…TANGO2 deficiency disorder is a rare genetic disease caused by biallelic defects in TANGO2 gene. We report the clinical phenotype of two children…”
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    Journal Article