New variants of <em>ABCA12</em> in harlequin ichthyosis baby

• Hlavní autoři: Sara Peixoto (Autor), Joana Amaral (Autor), Dolores Faria (Autor), Cristina Resende (Autor), Gabriela Mimoso (Autor), Lina Ramos (Autor)
• Médium: Kniha
• Vydáno: Hygeia Press di Corridori Marinella, 2018-04-01T00:00:00Z.
• Témata: article
• On-line přístup: Connect to this object online.

Harlequin ichthyosis (HI) is an extremely rare genetic skin disorder and the most severe form of a group of disorders, which includes lamellar ichthyosis and congenital ichthyosiform erythroderma. It consists in an autosomal recessive disorder with the majority of affected individuals being homozygo...