Epidermolysis Bullosa Simplex
What's New
Last Posted: Mar 05, 2023
- Known and novel mutations responsible for epidermolysis bullosa simplex cases in a Chinese population.
Zhang Jia, et al. Experimental and therapeutic medicine 2019 0 (6) 4661-4664 - Case Report: De novo KLHL24 Gene Pathogenic Variants in Chinese Twin Boys With Epidermolysis Bullosa Simplex.
Xu Xiaojing, et al. Frontiers in genetics 2021 0 729628 - Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Yueqian, et al. Acta dermato-venereologica 2021 0 (7) adv00503 - A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky Anne W, et al. Pediatric dermatology 2018 0 (2) 188-197 - Novel and recurrent mutations in Keratin 5 and 14 in Korean patients with Epidermolysis bullosa simplex.
Kang Tae-Won, et al. Journal of dermatological science 2010 0 (2) 90-4 - A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
Richardson Elizabeth S, et al. The Journal of investigative dermatology 2006 0 (1) 79-84 - Analysis of KRT5 and KRT14 gene mutations and mode of inheritance in Iranian patients with clinical suspicion of Epidermolysis bullosa simplex.
Khani Pouria et al. Medical journal of the Islamic Republic of Iran 2020 3443 - Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation.
Wertheim-Tysarowska K, et al. Journal of applied genetics 2015 10 - Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.
Bolling M C, et al. The British journal of dermatology 2011 3 (3) 637-44 - Epidermolysis bullosa simplex
From NCATS Genetic and Rare Diseases Information Center
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- Page last reviewed:Feb 1, 2024
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