The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence

Abstract Background Superficial epidermolytic ichthyosis (SEI), known as ichthyosis bullosa of Siemens (IBS; OMIM No. 146800) before, is a type of keratinopathic ichthyosis due to the KRT2 mutations (NM_000423.3; OMIM No. 600194). Here, we report the first case of SEI caused by a KRT2 mosaic mutatio...

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Bibliographic Details
Main Authors: Yue Li, Ruhong Cheng, Jianying Liang, Zhirong Yao, Ming Li
Format: Article
Language:English
Published: Wiley 2020-11-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Online Access:https://doi.org/10.1002/mgg3.1457