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...

Full description

Saved in:
Bibliographic Details
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
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455924002778
Tags: Add Tag
No Tags, Be the first to tag this record!