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 - Epidermolysis bullosa simplex with mottled pigmentation
From NCATS Genetic and Rare Diseases Information Center - Epidermolysis bullosa simplex, Dowling-Meara type
From NCATS Genetic and Rare Diseases Information Center - Epidermolysis bullosa simplex, generalized
From NCATS Genetic and Rare Diseases Information Center - Epidermolysis bullosa simplex, localized
From NCATS Genetic and Rare Diseases Information Center - Epidermolysis bullosa simplex, Ogna type
From NCATS Genetic and Rare Diseases Information Center
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Content source: