Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
NAV3 是一种神经元形态发生蛋白,其变异会导致智力障碍、发育迟缓和小头畸形
期刊:Communications Biology
影响因子:5.1
doi:10.1038/s42003-024-06466-1
Ghaffar Amama, Akhter Tehmeena, Strømme Petter, Misceo Doriana, Khan Amjad, Frengen Eirik, Umair Muhammad, Isidor Bertrand, Cogné Benjamin, Khan Asma A, Bruel Ange-Line, Sorlin Arthur, Kuentz Paul, Chiaverini Christine, Innes A Micheil, Zech Michael, Baláž Marek, Havrankova Petra, Jech Robert, Ahmed Zubair M, Riazuddin Sheikh, Riazuddin Saima