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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Main Authors: | Ting-Yu Chang, Zhu Wei Lim, Yi-Tzu Chu, Wan-Ju Wu, Mei-Hui Lee, Shun-Ping Chang, Dong-Jay Lee, Wen-Hsiang Lin, Ming Ho, Jin-Chung Shih, Gwo-Chin Ma, Ming Chen |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2025-01-01
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Series: | Taiwanese Journal of Obstetrics & Gynecology |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455924002778 |
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