Identification of a Novel PNPLA1 Mutation in a Spanish Family with Autosomal Recessive Congenital Ichthyosis

    December 2013 in “ British Journal of Dermatology ”
    Laura Fachal, L. Rodríguez-Pazos, Manuel Ginarte … Ana Vega
    Studysummary This study identified a new PNPLA1 mutation in a Spanish family with autosomal recessive congenital ichthyosis.
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