Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications

Subjects

Subjects :

Male
0301 basic medicine
medicine.medical_specialty
Dermatology
Biology
Junctional epidermolysis bullosa (medicine)
Severity of Illness Index
Biochemistry
Sampling Studies
DNA sequencing
03 medical and health sciences
Epidermolysis bullosa simplex
Molecular Biology
2708
Cell Biology
medicine
Humans
Genetic Predisposition to Disease
In patient
High-Throughput Nucleotide Sequencing
Prognosis
medicine.disease
Pedigree
Dystrophic epidermolysis bullosa
030104 developmental biology
Mutation
Female
Epidermolysis bullosa
Epidermolysis Bullosa

Details

ISSN :

0022202X

Volume :

137

Database :

OpenAIRE

Journal :

Journal of Investigative Dermatology

Accession number :

edsair.doi.dedup.....5c08e83b467bceb9a50506dc9a481274

Full Text :

https://doi.org/10.1016/j.jid.2017.07.830