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Last Updated: 10/31/2025

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Found 220 publications

Extremely Rare Neonatal Case With Pyloric Atresia, Heart Defects, Hypotonia, Jaundice, and Acidosis.

Extremely Rare Neonatal Case With Pyloric Atresia, Heart Defects, Hypotonia, Jaundice, and Acidosis.

Journal: Clinical case reports
Published: April 19, 2025

Pyloric Atresia Associated With Epidermolysis Bullosa- A Case Report.

Pyloric Atresia Associated With Epidermolysis Bullosa- A Case Report.

Journal: Journal of Ayub Medical College, Abbottabad : JAMC
Published: March 23, 2025

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.

Compound Heterozygous Null Variants in ITGB4 Gene Causing Severe Phenotype of Junctional Epidermolysis Bullosa With Pyloric Atresia in Thai Newborn: Genotype-Phenotype Correlation From a Case Report and Review of the Literature.

Journal: International journal of genomics
Published: February 21, 2025

Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.

Case Report: Alpha6 Integrin Disorder Presenting in Childhood with Nail Dysplasia and Onycholysis But No History of Fragile or Bullous Skin Changes.

Journal: Global medical genetics
Published: November 25, 2024

Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone.

Plectin ( PLEC )-Related Intermediate Epidermolysis Bullosa Simplex without Extracutaneous Involvement with Response to Dapsone.

Journal: Indian dermatology online journal
Published: October 21, 2024

Pyloric Atresia in a Neonate With Epidermolysis Bullosa: A Case Report.

Pyloric Atresia in a Neonate With Epidermolysis Bullosa: A Case Report.

Journal: Clinical case reports
Published: August 29, 2024

Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature.

Junctional Epidermolysis Bullosa With Pyloric Atresia Complicated by Esophageal Atresia and Nephrotic Syndrome: A Case Report and Review of the Literature.

Journal: Pediatric dermatology
Published: August 18, 2024

Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report.

Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report.

Journal: JAAD case reports
Published: July 29, 2024

Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant.

Congenital pyloric atresia associated with epidermolysis bullosa junctionalis: a novel lethal variant.

Journal: BMJ case reports
Published: July 29, 2024

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Lessons to Learn About the Misdiagnosis of a Rare Case in China: Bart Syndrome or Carmi Syndrome?

Journal: International medical case reports journal
Published: November 05, 2023

(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.

(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: July 22, 2023

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant.

Epidermolysis Bullosa With Pyloric Stenosis: A Novel Lethal Variant.

Journal: Cureus
Published: June 30, 2023
Showing 1-12 of 220

Last Updated: 10/31/2025