Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis
Journal
Pediatric Dermatology
ISSN
0736-8046
1525-1470
Date Issued
2019
Author(s)
Leah Lalor
Matthias Titeux
FRANCIS PALISSON ETCHARREn
María J. Yubero
Kaisa Tasanen
Laura Huilaja
Cristina Has
Gianluca Tadini
Anita N. Haggstrom
Alain Hovnanian
Anne W. Lucky
Type
Resource Types::text::journal::journal article
URL Institutional Repository
Subjects
epidermolysis bullosa
;
genetic diseases/mechanisms
;
genodermatoses
;
child
;
child, preschool
;
computer simulation
;
databases, factual
;
epidermolysis bullosa simplex
;
female
;
genetic association studies
;
genotype
;
humans
;
infant, newborn
;
keratin-5
;
male
;
mutation
;
phenotype
;
skin
;
cytokeratin 14
;
cytokeratin 5
;
immunoglobulin
;
cytokeratin 5
;
krt5 protein, human
;
article
;
blood transfusion
;
bronchomalacia
;
clinical article
;
controlled study
;
developmental disorder
;
disease association
;
epidermolysis bullosa simplex
;
erythema
;
exon
;
female
;
gene mutation
;
genetic analysis
;
genotype
;
genotype phenotype correlation
;
heterozygosity
;
human
;
hyperkeratosis
;
hyperpigmentation
;
immunoglobulin deficiency
;
krt5 gene
;
laryngomalacia
;
male
;
nail dystrophy
;
newborn
;
oral blister
;
palmoplantar keratoderma
;
priority journal
;
respiratory tract disease
;
reticulate erythema
;
skin aplasia
;
skin transplantation
;
tracheostomy
;
case report
;
child
;
computer simulation
;
epidermolysis bullosa simplex
;
factual database
;
genetic association study
;
genetics
;
mutation
;
pathology
;
phenotype
;
preschool child
;
skin