Comèl-Netherton syndrome - case report

• Κύριοι συγγραφείς: Izabela Błażewicz (Συγγραφέας), Alicja Rustowska (Συγγραφέας), Aleksandra Wilkowska (Συγγραφέας), Roman J. Nowicki (Συγγραφέας)
• Μορφή: Βιβλίο
• Έκδοση: Termedia Publishing House, 2014-11-01T00:00:00Z.
• Θέματα: article
• Διαθέσιμο Online: Connect to this object online.

Introduction. Comèl-Netherton syndrome is a rare autosomal recessive genodermatosis characterized by congenital ichthyosiform erythroderma, ichthyosis linearis circumflexa, trichorrhexis invaginata, and atopic diathesis. Comèl-Netherton syndrome is caused by mutations of the SPINK5 gene, which encod...