case_images: PMC10280004_01
case_images: PMC10280004_02
case_images: PMC10280004_03
case_images: The NGS reads of the trio, highlighting the de novo nature of the c.191A>G; pTyr64Cys variant.
case_images: fgene-14-1108852-g001.jpg
case_images: PMC10280004_03_fgene-14-1108852-g001.jpg
case_images: F1
case_images: The presence of the variant was confirmed in the proband by Sanger sequencing and excluded in both parents, indicating that the variant occurred de novo in a heterozygous state (Figure 1).
case_images: Timeline showcasing the course of the disease, establishing the diagnosis of Takenouchi-Kosaki syndrome and the multidisciplinary approach. Photographs show gastrostomy and abdominal wall infection (A), camptodactyly (B), syndactyly of toes (C), and distictive facial gestalt (D).
case_images: fgene-14-1108852-g002.jpg
case_images: PMC10280004_03_fgene-14-1108852-g002.jpg
case_images: F2
case_images: TKS. The summary of the clinical phenotypic features, course of the disease including gastroenterological problems, diagnostic procedures uncovering congenital anomalies and immunodeficiency, as well as implemented multidisciplinary care are displayed in Timeline (Figure 2).