Search for dissertations about: "KLICK syndrome"

Found 1 swedish dissertation containing the words KLICK syndrome.

2. 1. Genetic and Molecular Studies of Two Hereditary Skin Disorders

   Author : Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

   Abstract : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. READ MORE