Epidermolysis Bullosa
What's New
Last Posted: Mar 16, 2023
- Epidermolysis Bullosa in Pediatric Palliative Care: A Case Series.
Kirsten Ball et al. Journal of palliative medicine 2023 - Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu Wei-Ting et al. Orphanet journal of rare diseases 2022 17(1) 451 - Epidemiological, clinical, pathological and genetic characteristics of epidermolysis bullosa in New Zealand.
Gear Russell et al. The Australasian journal of dermatology 2021 - New Clinical Trial Grants for Rare Diseases
R Rubin, JAMA, November 23, 2021 - A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa.
Phillips Gregory S et al. Journal of the American Academy of Dermatology 2021 - A Review of Acquired Autoimmune Blistering Diseases in Inherited Epidermolysis Bullosa: Implications for the Future of Gene Therapy.
Patel Payal M et al. Antibodies (Basel, Switzerland) 2021 10(2) - Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.
Mariath Luiza Monteavaro et al. Anais brasileiros de dermatologia 2021 - NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results - a pilot study.
Singh Kanika et al. BMC medical genetics 2020 Nov 21(1) 216 - Raloxifene and n-Acetylcysteine Ameliorate TGF-Signalling in Fibroblasts from Patients with Recessive Dominant Epidermolysis Bullosa.
Aguado Tania et al. Cells 2020 Sep 9(9) - 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
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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
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