Lethal Form of Netherton Syndrome in a Consanguineous Multiplex Family

    January 2011 in “ Archives de Pédiatrie
    Y. Capri, P Vanlieferinghen, Burney J. Le Bœuf … Bénédicte Lecomte
    Studysummary This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.
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