Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
双等位基因ATG4D变异与一种以言语和运动障碍为特征的神经发育障碍相关。
期刊:npj Genomic Medicine
影响因子:4.7
doi:10.1038/s41525-022-00343-8
Marie Morimoto ,Vikas Bhambhani ,Nour Gazzaz ,Mariska Davids ,Paalini Sathiyaseelan ,Ellen F Macnamara ,Jennifer Lange, Anna Lehman ,Patricia M Zerfas ,Jennifer L Murphy ,Maria T Acosta ,Camille Wang ,Emily Alderman ,Audrey Thurm ,David R Adams ,Wendy J Introne ,Sharon M Gorski ,Cornelius F Boerkoel ,William A Gahl ,Cynthia J Tifft ,May Christine V Malicdan
