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Epidermolysis Bullosa Simplex Kobner

Known as: Epidermolysis Bullosa Simplex, Koebner Type, EB simplex, EBS, GENERALIZED 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1971-2017
01219712017

Related topics

Related topics

10 relations
Autosomal dominant inheritanceBullaCockayne-Touraine DiseaseEpidermis
(More)

Broader (3)

Epidermolysis BullosaEpidermolysis Bullosa SimplexSkin Abnormalities

Narrower (1)

Progressive recessive dystrophic epidermolysis bullosa

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Epidermolysis Bullosa Simplex Kobner
Epidermis
Autosomal dominant inheritance
Bulla
Epidermolysis Bullosa
Palmoplantar Keratosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2014
2014
Burden of itch in epidermolysis bullosa.
BACKGROUND Itch is an unpleasant feeling that leads to scratching. It is a common, but understudied, problem in patients with… (More)
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2013
2013
Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa
BACKGROUND Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous… (More)
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2010
2010
Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
Plectin is a cytoskeletal linker protein which has a long central rod and N- and C-terminal globular domains. Mutations in the… (More)
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2006
2006
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
BACKGROUND Epidermolysis bullosa simplex (EBS) comprises a group of hereditary bullous diseases characterized by intraepidermal… (More)
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2005
2005
Epidermolysis bullosa simplex associated with pyloric atresia is a novel clinical subtype caused by mutations in the plectin gene (PLEC1).
Epidermolysis bullosa (EB) is an inherited mechano-bullous disorder of the skin, and is divided into three major categories: EB… (More)
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2005
2005
Impact of inherited epidermolysis bullosa on parental interpersonal relationships, marital status and family size.
BACKGROUND The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological… (More)
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2004
2004
Assessment of mobility, activities and pain in different subtypes of epidermolysis bullosa.
A standardized questionnaire was used to assess mobility, activity and pain in 140 randomly chosen children, who were… (More)
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2003
2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Epidermolysis bullosa (EB) is a group of inherited disorders characterized by increased skin fragility, resulting in blisters and… (More)
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2002
2002
Quality of life in epidermolysis bullosa.
The quality of life of people with epidermolysis bullosa (EB) living in Scotland was assessed by postal questionnaire using the… (More)
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1971
1971
Phenotype-genotype correlations in epidermolysis bullosa.
In Norway, epidermolysis bullosa (EB) has been studied from the clinical, genetic and epidemiologic viewpoints. Heterogeneity is… (More)
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