Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly
双等位基因 TTI1 变异导致常染色体隐性神经发育障碍,并伴有小头畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.01.006
Margaux Serey-Gaut, Marisol Cortes, Periklis Makrythanasis, Mohnish Suri, Alexander M R Taylor, Jennifer A Sullivan, Ayat N Asleh, Jaba Mitra, Mohamad A Dar, Amy McNamara, Vandana Shashi, Sarah Dugan, Xiaofei Song, Jill A Rosenfeld, Christelle Cabrol, Justyna Iwaszkiewicz, Vincent Zoete, Davut Pehli