Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
伴有神经发育异常的 MTOR 相关伊藤色素减退症的临床表现
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-021-01161-6
Virginie Carmignac, Cyril Mignot, Emmanuelle Blanchard, Paul Kuentz, Marie-Hélène Aubriot-Lorton, Victoria E R Parker, Arthur Sorlin, Sylvie Fraitag, Jean-Benoît Courcet, Yannis Duffourd, Diana Rodriguez, Rachel G Knox, Satyamaanasa Polubothu, Anne Boland, Robert Olaso, Marc Delepine, Véronique Darm