Superficial epidermolytic ichthyosis caused by a novel KRT2 mutation
Author:
Publisher
Elsevier BV
Subject
Dermatology,Molecular Biology,Biochemistry
Reference6 articles.
1. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing;Akiyama;Br J Dermatol,2005
2. Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1;Sung;J Dermatol Sci,2013
3. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens;Whittock;Br J Dermatol,2001
4. Genomic organization and fine mapping of the keratin 2e gene (KRT2E) V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens;Smith;J Invest Dermatol,1998
5. A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens;Takizawa;J Invest Dermatol,2000
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Deep Phenotyping of Superficial Epidermolytic Ichthyosis due to a Recurrent Mutation in KRT2;International Journal of Molecular Sciences;2022-07-14
2. Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis;Pediatric Dermatology;2021-11-14
3. The first case of a mosaic superficial epidermolytic ichthyosis diagnosed by Ultra‐Deep Sequence;Molecular Genetics & Genomic Medicine;2020-09-02
4. Two cases of ichthyosis and their EPR analyses of stratum corneum;Journal of Cutaneous Immunology and Allergy;2019-04-10
5. Keratins K2 and K10 are essential for the epidermal integrity of plantar skin;Journal of Dermatological Science;2016-01
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