Last Posted: Jun 08, 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
- Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases.
Mellerio Jemima E et al. Orphanet journal of rare diseases 2020 Jun 15(1) 142
- Next-generation sequencing through multi-gene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen Fuying et al. Clinical genetics 2020 Jun
- Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guidelines.
Martin K et al. Orphanet journal of rare diseases 2019 14(1) 133
- Genetic counseling of high-risk isolated populations: A worldwide challenge.
Sagi-Dain Lena et al. Birth defects research 2020 Mar 112(4) 316-320
- Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat Irina et al. Frontiers in medicine 2018 5363
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics 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.