Second occurrence of the PAK3-R67C variation and multiscale analysis of the corresponding knock-in mice reveal novel phenotypic features and functional synaptic defects

Variations in PAK3, a gene located on the X chromosome, are known to contribute to intellectual disability (ID) and are associated with a broad clinical spectrum. The correlation between genotype and phenotype in PAK3-related disorders remains incompletely understood. In this study, we focused on th...

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Үндсэн зохиолчид:	Manon Dobrigna, Sandrine Poëa-Guyon, Mathieu Legras, Delphine Le Verger, Kevin Duarte, Catherine Sébrié, Roseline Poirier, Sylvie Granon, Serge Marty, Annick Toutain, Glenn Dallérac, Cyrille Vaillend, Jean-Vianney Barnier
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2025-12-01
Цуврал:	Neurobiology of Disease
Нөхцлүүд:	Intellectual disability Mouse knock-in Genotype/phenotype correlation Microcephaly PAK3-R67C
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S096999612500405X
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!