Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report
Suci Widhiati, MD, PhD,
Nabila Kirtti Pradipta, MD, MSc,
Dewajani Purnomosari, MSi, PhD,
Retno Danarti, MD, PhD,
Alifah Anggraini, MD, MSc,
Retno Palupi-Baroto, MD, MSc,
Niken Trisnowati, MD, PhD
Affiliations
Suci Widhiati, MD, PhD
Department of Dermatology and Venereology, Faculty of Medicine, Universitas Sebelas Maret/Dr Moewardi General Hospital, Surakarta, Indonesia
Nabila Kirtti Pradipta, MD, MSc
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia
Dewajani Purnomosari, MSi, PhD
Department of Histology and Cell Biology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia
Retno Danarti, MD, PhD
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia
Alifah Anggraini, MD, MSc
Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia
Retno Palupi-Baroto, MD, MSc
Department of Child Health, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia
Niken Trisnowati, MD, PhD
Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada/Dr Sardjito General Hospital, Yogyakarta, Indonesia; Correspondence to: Niken Trisnowati, MD, PhD, Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Jl. Farmako Sekip Utara, Yogyakarta, 55281, Indonesia.
