Aleksandra Szczawińska-Popłonyk Natalia Popłonyk Magdalena Badura-Stronka Jerome Juengling Kerstin Huhn Saskia Biskup Bartłomiej Bancerz Jarosław Walkowiak
10.3389/fgene.2023.1108852
Front Genet
2023 Jun 6;14:1108852.
cdc42 takenouchi-kosaki syndrome antibody deficiency c191a>g variant macrothrombocytopenia neurodevelopmental delay
CC BY
https://pubmed.ncbi.nlm.nih.gov/37347054/
Case Reports
PMC10280004
37347054
The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in CDC42: a case report
2023