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Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report.
Widhiati, Suci; Pradipta, Nabila Kirtti; Purnomosari, Dewajani; Danarti, Retno; Anggraini, Alifah; Palupi-Baroto, Retno; Trisnowati, Niken.
Affiliation
  • Widhiati S; Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sebelas Maret/Dr Moewardi General Hospital, Surakarta, Indonesia.
  • Pradipta NK; Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
  • Purnomosari D; Department of Histology and Cell Biology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.
  • Danarti R; Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
  • Anggraini A; Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
  • Palupi-Baroto R; Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
  • Trisnowati N; Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia.
JAAD Case Rep ; 50: 75-78, 2024 Aug.
Article de En | MEDLINE | ID: mdl-39070921
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: JAAD Case Rep Année: 2024 Type de document: Article Pays d'affiliation: Indonésie Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Langue: En Journal: JAAD Case Rep Année: 2024 Type de document: Article Pays d'affiliation: Indonésie Pays de publication: États-Unis d'Amérique