Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report
Article in JAAD Case Reports (May 2024)
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Article in JAAD Case Reports (May 2024)
Article in Frontiers in Pediatrics (March 2023)
Article in Journal of Ultrasound in Medicine (November 2022)