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

• मुख्य लेखकों: Sara Peixoto (लेखक), Joana Amaral (लेखक), Dolores Faria (लेखक), Cristina Resende (लेखक), Gabriela Mimoso (लेखक), Lina Ramos (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Hygeia Press di Corridori Marinella, 2018-04-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...