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

Widhiati, Suci and Pradipta, Nabila Kirtti and Purnomosari, D. and Danarti, Retno and Anggraini, Alifah and Palupi-Baroto, Retno and Trisnowati, Niken (2024) Lethal Carmi syndrome (junctional epidermolysis bullosa-pyloric atresia) with a novel and recurrent compound integrin beta 4 heterozygous mutation: A case report. JAAD Case Reports, 50. 75 - 78. ISSN 23525126

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Item Type: Article
Additional Information: Cited by: 0; All Open Access; Gold Open Access; Green Final Open Access; Green Open Access
Uncontrolled Keywords: abdominal radiography; antepartum hemorrhage; Article; atresia; autosomal recessive disorder; bladder malformation; carmi syndrome; case report; clinical article; epidermolysis bullosa; erosion; exon; female; gene; genetic variability; human; hydronephrosis; itgb4 gene; laparotomy; leg malformation; low birth weight; missense mutation; newborn; nonsense mutation; physical examination; placenta previa; prematurity; pyloric atresia; pyloroplasty; Sanger sequencing; septicemia; skin aplasia; stomach disease; stomach distension; ultrasound; vomiting; whole exome sequencing
Subjects: R Medicine > RL Dermatology
Divisions: Faculty of Medicine, Public Health and Nursing > Non Surgical Divisions
Depositing User: Ani PURWANDARI
Date Deposited: 01 Oct 2025 05:04
Last Modified: 01 Oct 2025 05:04
URI: https://ir.lib.ugm.ac.id/id/eprint/21961

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