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

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

The CDC42 (cell division cycle homolog 42) gene product, Cdc42 belongs to the Rho GTPase family which plays a pivotal role in the regulation of multiple cellular functions, including cell cycle progression, motility, migration, proliferation, transcription activation, and reactive oxygen species pro...

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Bibliographic Details
Main Authors: Aleksandra Szczawińska-Popłonyk, Natalia Popłonyk, Magdalena Badura-Stronka, Jerome Juengling, Kerstin Huhn, Saskia Biskup, Bartłomiej Bancerz, Jarosław Walkowiak
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
Takenouchi-Kosaki syndrome
Cdc42
c.191A>G variant
antibody deficiency
macrothrombocytopenia
neurodevelopmental delay
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1108852/full

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