The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence
Author:
Affiliation:
1. Department of Dermatology Xinhua Hospital Shanghai China
2. Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China
3. Center for Rare Disease Shanghai China
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1457
Reference11 articles.
1. Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation
2. Loss of Keratin K2 Expression Causes Aberrant Aggregation of K10, Hyperkeratosis, and Inflammation
3. The categories of cutaneous mosaicism: A proposed classification
4. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
5. A novel H1 domain mutation in the keratin 2 gene in a Japanese family with ichthyosis bullosa of Siemens
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3. Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2;International Journal of Molecular Sciences;2022-07-14
4. A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report;BMC Medical Genomics;2021-11-01
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