Molecular Testing in Epidermolysis Bullosa
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference46 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB;Fine;J Am Acad Dermatol,2008
2. Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk;Pfendner;Prenat Diagn,2003
3. Prenatal diagnosis for severe inherited skin disorders: 25 years' experience;Fassihi;Br J Dermatol,2006
4. Epidermolysis bullosa: the expanding mutation database;Uitto;J Invest Dermatol,2004
5. A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation;Irvine;J Invest Dermatol,1997
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2. Detection of Novel Biallelic Causative Variants in COL7A1 Gene by Whole-Exome Sequencing, Resulting in Congenital Recessive Dystrophic Epidermolysis Bullosa in Three Unrelated Families;Diagnostics;2022-06-23
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4. A retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa;Journal of the American Academy of Dermatology;2021-10
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