Browsing by Subject "Nail Dystrophy"

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Expanding the nude SCID/CID phenotype associated with FOXN1 homozygous, compound heterozygous, or heterozygous mutations

Giardino, Giuliana; Sharapova, Svetlana O.; Ciznar, Peter; Dhalla, Fatima; Maragliano, Luca; İslamoğlu, Candan; Fırtına, Sinem (Springer Link, 2021)

Human nude SCID is a rare autosomal recessive inborn error of immunity (IEI) characterized by congenital athymia, alopecia, and nail dystrophy. Few cases have been reported to date. However, the recent introduction of ...