Epidermolysis bullosa with pyloric atresia is a form of junctional epidermolysis bullosa associated with gastrointestinal abnormalities, which may include pyloric atresia. Genotype phenotype correlation is poorly understood and prognosis is difficult, if not impossible, to predict. Immunoflourescence mapping is an ideal candidate for developing a broad prognostic indicator for epidermolysis bullosa with pyloric atresia without the need for genetic mutation analysis. However, the tool developed in this paper does have limitations due to the small number of cases available and the effects of deleterious mutations in highly conserved cysteine residues on the predicted length of survival
Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have su...
Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is an autosomal recessive inherit...
This thesis aims to genotype unusual phenotypes of patients with the genetic blistering disorder epi...
Pyloric atresia (PA) is an unusual congenital disorder that accounts for about 1% of all intestinal ...
Genetic mutations invalidating the genes for integrin α6β4 and, in some cases, plectin are associate...
Background: Epidermolysis bullosa (EB) is characterized by blisters and erosions on the trauma-prone...
Abstract: Immunological mapping, an immunofluorescence technique, is currently the method most used ...
Objective: Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of al...
Junctional epidermolysis bullosa associated with pyloric atresia (JEB-PA) is one of the most severe ...
We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to...
SummaryEpidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, ma...
The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant a...
Background: Epidermolysis bullosa (EB) comprises a heterogeneous group of skin fragility disorders, ...
In this study we examined two unrelated patients affected with the lethal variant of junctional epid...
Epidermolysis bullosa(EB), a heterogenous group of mechanobullous disease in which minimal trauma du...
Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have su...
Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is an autosomal recessive inherit...
This thesis aims to genotype unusual phenotypes of patients with the genetic blistering disorder epi...
Pyloric atresia (PA) is an unusual congenital disorder that accounts for about 1% of all intestinal ...
Genetic mutations invalidating the genes for integrin α6β4 and, in some cases, plectin are associate...
Background: Epidermolysis bullosa (EB) is characterized by blisters and erosions on the trauma-prone...
Abstract: Immunological mapping, an immunofluorescence technique, is currently the method most used ...
Objective: Pyloric atresia (PA) is a rare congenital anomaly that constitutes approximately 1% of al...
Junctional epidermolysis bullosa associated with pyloric atresia (JEB-PA) is one of the most severe ...
We present 5 cases of pyloric atresia associated with junctional epidermolysis bullosa, from 2003 to...
SummaryEpidermolysis bullosa with pyloric atresia (EB-PA), an autosomal recessive genodermatosis, ma...
The association of pyloric atresia and epidermolysis bullosa(EB) in newborn is rare and inheritant a...
Background: Epidermolysis bullosa (EB) comprises a heterogeneous group of skin fragility disorders, ...
In this study we examined two unrelated patients affected with the lethal variant of junctional epid...
Epidermolysis bullosa(EB), a heterogenous group of mechanobullous disease in which minimal trauma du...
Immunofluorescence studies of junctional epidermolysis bullosa with pyloric atresia (JEB-PA) have su...
Pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) is an autosomal recessive inherit...
This thesis aims to genotype unusual phenotypes of patients with the genetic blistering disorder epi...