New variants of <em>ABCA12</em> in harlequin ichthyosis baby
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...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2018-04-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/549 |