Disease: Epidermolysis bullosa with pyloric atresia
- A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome
- A case of congenital pyloric atresia with dystrophic epidermolysis bullosa
- A heterozygous mutation in ITGB4 causing a mild phenotype of junctional epidermolysis bullosa
- A new prenatal sonographic sign of epidermolysis bullosa
- A Nonlethal Case of Junctional Epidermolysis Bullosa and Congenital Pyloric Atresia: Compound Heterozygosity in a Patient with a Novel Integrin Beta 4 Gene Mutation
- Age and etiology of childhood epidermolysis bullosa mortality
- Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia
- Amino Acid Substitution in the Cysteine-Rich Region of the Integrin β4 Subunit Causes Late-Onset Mild Junctional Epidermolysis Bullosa without Extracutaneous Involvement
- Aplasia Cutis Congenita of the Lower Limb: A Case Report
- Autosomal recessive inheritance of a novel missense mutation of ITGB4 for Epidermolysis-Bullosa pyloric-atresia: a case report
- Bart´s syndrome associated with epidermolysis bullosa junctionalis and with pyloric atresia. An autopsy case report
- Bart's Syndrome with Novel Frameshift Mutations in the COL7A1 Gene
- Biallelic ITGB4 variants in familial pyloric atresia without epidermolysis bullosa: Report of two families with five siblings
- Carmi Syndrome in a Neonate: An Exacting Surgical Challenge
- Carmi Syndrome in a Preterm Neonate: A Multidisciplinary Approach and Ethical Challenge
- Case of epidermolysis bullosa with pyloric atresia
- Case report: A case of epidermolysis bullosa complicated with pyloric atresia and a literature review
- Case Report: Uncommon Association of <em>ITGB4</em> and <em>KRT10</em> Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita
- Case Report: Uncommon Association of ITGB4 and KRT10 Gene Mutation in a Case of Epidermolysis Bullosa With Pyloric Atresia and Aplasia Cutis Congenita
- Categorizing immunoflourescence mapping in epidermolysis bullosa with pyloric atresia: Use as a broad prognostic indicator
- Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India
- Clinical outcomes and molecular profile of patients with Carmi syndrome: A systematic review and evidence quality assessment
- Complete paternal isodisomy of chromosome 17 in junctional epidermolysis bullosa with pyloric atresia
- Compound heterozygosity for novel splice site mutations of ITGA6 in lethal junctional epidermolysis bullosa with pyloric atresia
- Compound Heterozygous Mutations with a Novel Variant in Integrin Beta4 Cause Epidermolysis Bullosa with Pyloric Atresia and Urologic Abnormalities
- Congenital pyloric atresia - nine new cases: Single-center experience of the long-term follow-up and the lessons learnt over a decade
- Congenital pyloric atresia and associated anomalies: a case series
- Congenital Pyloric Atresia and Epidermolysis Bullosa: Report of a Rare Association
- Congenital pyloric atresia, presentation, management, and outcome: a report of 20 cases
- Congenital pyloric atresia, type B; with junctional epidermolysis bullosa
- Congenital pyloric atresia: Early and delayed presentations-A single centre experience of a rare anomaly
- Congenital Pyloric Atresia: Experience with a Series of 11 Cases and Collective Review
- Desquamative enteropathy and pyloric atresia without skin disease caused by a novel intracellular beta4 integrin mutation
- Differential expression of pyloric atresia in junctional epidermolysis bullosa with ITGB4 mutations suggests that pyloric atresia is due to factors other than the mutations and not predictive of a poor outcome: three novel mutations and a review of the li
- DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia
- Epidermolysis bullosa simplex congenital antenatal discovery and contribution of 3D ultrasound
- Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of <em>PLEC</em>, <em>LAMC2</em>, <em>ITGB4</em> and <em>C
- Epidermolysis bullosa with congenital absence of skin: Review of the literature
- Epidermolysis bullosa with congenital pyloric atresia: novel mutations in the beta 4 integrin gene (ITGB4) and genotype/phenotype correlations
- Epidermolysis bullosa with pyloric atresia
- Epidermolysis Bullosa with Pyloric Atresia and Aplasia Cutis in a Newborn Due to Homozygous Mutation in ITGB4
- Epidermolysis Bullosa with Pyloric Atresia and Significant Urologic Involvement
- Epidermolysis bullosa with pyloric atresia associated with compound heterozygous ITGB4 pathogenic variants: Minimal skin involvement but severe mucocutaneous disease
- Epidermolysis bullosa with pyloric atresia consistently demonstrates concurrent low intra-basal epidermal and lamina lucida cleavage planes: a survey of six cases
- Epidermolysis bullosa with pyloric atresia: Report of two cases in consecutive siblings
- Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant
- Ethics Roundtable: How Much is Too Much?
- First successful preimplantation genetic diagnosis of epidermolysis bullosa with pyloric atresia: case study of a novel c.4505-4508insACTC mutation
- Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review
- Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment
- Identification of novel compound heterozygous ITGB4 mutations in a Chinese woman with junctional epidermolysis bullosa without pylori atresia but profound urinary symptoms: A case report and review of the literature
- Identification of two rare and novel large deletions in ITGB4 gene causing epidermolysis bullosa with pyloric atresia
- Immunofluorescence analysis of villous trophoblasts: a tool for prenatal diagnosis of inherited epidermolysis bullosa with pyloric atresia
- Integra<sup>®</sup>-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome
- Intestinal Failure in Junctional Epidermolysis Bullosa: Mild Skin Disease, Severe Diarrhea
- Intracellular degradation of beta4 integrin in lethal junctional epidermolysis bullosa with pyloric atresia
- ITGB4 missense mutation in a transmembrane domain causes non-lethal variant of junctional epidermolysis bullosa with pyloric atresia
- ITGB4-mutated Junctional Epidermolysis Bullosa without Pyloric Atresia Presenting with Severe Urinary Involvement and Late-onset Minimal Skin Fragility: Diagnostic and Therapeutic Challenges
- Junctional epidermolysis bullosa without pyloric atresia due to a homozygous missense mutation in ITGB4
- Junctional epidermolysis bullosa-pyloric atresia syndrome with extensive congenital aplasia cutis
- Large gastric perforation in carmi syndrome: a morbid complication in a rare association
- Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?
- Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin beta4 gene
- Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin β4 gene
- Long-term follow-up of a spontaneously improving patient with junctional epidermolysis bullosa associated with ITGB4 c.3977-19T>A splicing mutation
- Lungs "Hassalloid´s-like" bodies in children with epidermolysis bullosa junctionalis and bart´s syndrome
- Management of digestive lesions associated to congenital epidermolysis bullosa
- Mild phenotype of junctional epidermolysis bullosa with pyloric atresia due to a novel mutation of the ITGB4 gene
- Muscle-Related Plectinopathies
- Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex
- Mutation update: The spectra of PLEC sequence variants and related plectinopathies
- Neonatal epidermolysis bullosa: lessons to learn about genetic counseling
- Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia
- Novel compound heterozygous ITGB4 mutations underlie lethal junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita
- Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia
- Novel missense p.R252L mutation of ITGB4 compounded with known 3793+1G>A mutation associated with nonlethal epidermolysis bullosa-pyloric atresia with obstructive uropathy
- Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations
- Overview of complications associated with epidermolysis bullosa: A multicenter retrospective clinical analysis of 152 cases
- Phenotypic discordance between siblings with junctional epidermolysis bullosa-pyloric atresia
- Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia
- Plectin in Skin Fragility Disorders
- Plectin-related skin diseases
- Prenatal diagnosis of pyloric atresia-junctional epidermolysis bullosa syndrome in a fetus not known to be at risk
- Prenatal findings in epidermolysis bullosa with pyloric atresia in a family not known to be at risk
- Prenatal ultrasound findings and a new ultrasonographic sign of epidermolysis bullosa with congenital pyloric atresia: a report of three cases
- Prenatally diagnosed congenital pyloric atresia in consecutive three siblings: a case report
- Prognostic assessment and management of a patient with Carmi syndrome. A case report
- Pyloric atresia and Down's syndrome: prenatal double bubble false sign
- Pyloric atresia associated with epidermolysis bullosa: report of two cases and review of the literature
- Pyloric atresia with epidermolysis bullosa: fetal MRI diagnosis with postnatal correlation
- Pyloric atresia--three cases and review of literature
- Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4)
- Pyloric atresia: a report of 3 cases
- Rapid decay of alpha6 integrin caused by a mis-sense mutation in the propeller domain results in severe junctional epidermolysis bullosa with pyloric atresia
- Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome
- Splicing modulation of integrin beta4 pre-mRNA carrying a branch point mutation underlies epidermolysis bullosa with pyloric atresia undergoing spontaneous amelioration with ageing
- Syndromes with skin fragility
- Syndromic association of pyloric atresia and epidermolysis bullosa (Carmi syndrome)--a case report
- The key role of ultrasound examination in the prenatal diagnosis of epidermolysis bullosa with pyloric atresia
- Type II Congenital Pyloric Atresia with Desquamative Enteropathy Diagnosed Postoperatively: A Case Report