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...

Descripción completa

Detalles Bibliográficos
Autores principales: Szczawińska-Popłonyk, Aleksandra, Popłonyk, Natalia, Badura-Stronka, Magdalena, Juengling, Jerome, Huhn, Kerstin, Biskup, Saskia, Bancerz, Bartłomiej, Walkowiak, Jarosław
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280004/
https://www.ncbi.nlm.nih.gov/pubmed/37347054
http://dx.doi.org/10.3389/fgene.2023.1108852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10280004/
https://www.ncbi.nlm.nih.gov/pubmed/37347054
http://dx.doi.org/10.3389/fgene.2023.1108852

Ejemplares similares