Article
The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra-Deep Sequence.
Molecular genetics & genomic medicine - 1 Nov 2020
Li Yue, Cheng Ruhong, Liang Jianying, Yao Zhirong, Li Ming
Abstract excerpt
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 mutation. METHODS: We presented the clinical data of a 5-year-old Chinese boy who suffered from SEI. The histopathological...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.