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Case Report

Published on 06 Jun 2023

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

in Genetics of Common and Rare Diseases

  • Aleksandra Szczawińska-Popłonyk
  • Natalia Popłonyk
  • Magdalena Badura-Stronka
  • Jerome Juengling
  • Kerstin Huhn
  • Saskia Biskup
  • Bartłomiej Bancerz
  • Jarosław Walkowiak
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
Frontiers in Genetics
doi 10.3389/fgene.2023.1108852
  • 2,318 views
  • 3 citations