Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD). GD is a glycolipid storage disease leading to widely variable phenotypes such as hydrops fetalis, congenital ichthyosis, hepatosplenomegaly, thrombo...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2019-07-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/706 |