Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
CTNNB1神经发育综合征的基因型、功能和表型特征
期刊:HGG Advances
影响因子:3.6
doi:10.1016/j.xhgg.2025.100483
Žakelj Nina, Gosar David, MiroÅ¡eviÄ Å pela, Sanders Stephan J, Ljungdahl Alicia, Kohani Sayeh, Huang Shouhe, Leong Lok I, An Ying, Teo Miou-Jing, Moultrie Fiona, Jerala Roman, LainÅ¡Äek DuÅ¡ko, ForstneriÄ Vida, SuÅ¡jan Petra, Lisowski Leszek, Perez-Iturralde Andrea, Mrak Jasna Oražem, Chan Ho Yin Edwin, Osredkar Damjan