Prenatal diagnosis of harlequin ichthyosis: a case report

• 主要な著者: Mudunuri Vijayakumari (著者), Desai. Kamalakar Reddy (著者), Madhavilatha Routhu (著者), Manasvi Vuchuru (著者), Nallamilli Sunitha Reddy (著者)
• フォーマット: 図書
• 出版事項: Korean Society of Obstetrics and Gynecology, 2020-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused by mutations in the adenosine triphosphate-binding cassette transporter protein A12 gene, and the pattern of inherit...