{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["14"],"submitter":["Szczawinska-Poplonyk A"],"pubmed_abstract":["The <i>CDC42</i> (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 production. The Cdc42 molecule controls various tissue-specific functional pathways underpinning organogenesis as well as developmental integration of the hematopoietic and immune systems. Heterozygous c.191A>G (p.Tyr64Cys) pathogenic variants in <i>CDC42</i> cause Takenouchi-Kosaki syndrome characterized by a spectrum of phenotypic features comprising psychomotor developmental delay, sensorineural hearing loss, growth retardation, facial dysmorphism, cardiovascular and urinary tract malform"],"journal":["Frontiers in genetics"],"pagination":["1108852"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10280004"],"repository":["biostudies-literature"],"pubmed_title":["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 <i>CDC42</i>: a case report."],"pmcid":["PMC10280004"],"pubmed_authors":["Huhn K","Bancerz B","Szczawinska-Poplonyk A","Juengling J","Badura-Stronka M","Poplonyk N","Biskup S","Walkowiak J"],"additional_accession":[]},"is_claimable":false,"name":"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 <i>CDC42</i>: a case report.","description":"The <i>CDC42</i> (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 production. The Cdc42 molecule controls various tissue-specific functional pathways underpinning organogenesis as well as developmental integration of the hematopoietic and immune systems. Heterozygous c.191A>G (p.Tyr64Cys) pathogenic variants in <i>CDC42</i> cause Takenouchi-Kosaki syndrome characterized by a spectrum of phenotypic features comprising psychomotor developmental delay, sensorineural hearing loss, growth retardation, facial dysmorphism, cardiovascular and urinary tract malform","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-18T17:06:26.145Z","creation":"2025-04-07T04:37:14.622Z"},"accession":"S-EPMC10280004","cross_references":{"pubmed":["37347054"],"doi":["10.3389/fgene.2023.1108852"]}}