Genetic investigations of autosomal recessive inherited ichthyosis impressed by fetal ultrasound: Exome sequencing and haplotype linkage analysis
Objective: Ichthyosis are complex skin diseases, characterized by hyperkeratosis with various degrees of thickening, desquamation, and erythema. The prenatal diagnosis of ichthyosis is challenged due to the clinical and genetic heterogeneity and the late-onset of fetal features on ultrasound scan. H...
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| Principais autores: | , , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Elsevier
2025-01-01
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| Serier: | Taiwanese Journal of Obstetrics & Gynecology |
| Fag: | |
| Online adgang: | http://www.sciencedirect.com/science/article/pii/S1028455924002778 |
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