Dystrophic Epidermolysis Bullosa
What's New
Last Posted: Dec 15, 2023
- Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants.
Hyeok-Jin Kwon, et al. Annals of dermatology 2023 0 (Suppl 2) S195-S200 - Recessive dystrophic epidermolysis bullosa caused by a novel COL7A1 variant with isodisomy.
Yo Niida, et al. Human genome variation 2023 0 (1) 29 - Genotype-Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre.
Yenamandra Vamsi K, et al. Acta dermato-venereologica 2018 0 (9) 873-879 - Thrombospondin-1 Is a Major Activator of TGF-? Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.
Atanasova Velina S, et al. The Journal of investigative dermatology 2019 0 (7) 1497-1505.e5 - A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa.
Garcia Teresa Maria, et al. Genes 2020 0 (12) - 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 - Clinical characteristics associated with increased wound size in patients with recessive dystrophic epidermolysis bullosa.
Solis Daniel C, et al. Pediatric dermatology 2021 0 (3) 704-706 - Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype-phenotype correlation.
Natale Mónica Inés, et al. American journal of medical genetics. Part A 2022 0 (11) 3153-3161 - A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky Anne W, et al. Pediatric dermatology 2018 0 (2) 188-197 - Genomics-based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica.
Vahidnezhad Hassan, et al. Human mutation 2020 0 (5) 906-912
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 18, 2024
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