NIPAL4 Mutation c.527C>A Identified in Romanian Patients With Autosomal Recessive Congenital Ichthyosis

    D. Maier, Adrian Florea, Mariana Cornelia Tilinca, Ancuța Zazgyva, Rodica Cosgarea
    Studysummary This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
    Automatically generated from the study's abstract, not written by a person, and not a review of the full paper. Not medical advice or a treatment recommendation. Read the original study, and consult a qualified healthcare professional before changing treatment. Full disclaimer
    Discuss this study in the Community →