Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

• Auteurs principaux: Gregorio Serra (Auteur), Luigi Memo (Auteur), Paola Cavicchioli (Auteur), Mario Cutrone (Auteur), Mario Giuffrè (Auteur), Maria Laura La Torre (Auteur), Ingrid Anne Mandy Schierz (Auteur), Giovanni Corsello (Auteur)
• Format: Livre
• Publié: BMC, 2022-08-01T00:00:00Z.
• Sujets: article
• Accès en ligne: Connect to this object online.

Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutat...