Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
TMEM222 中的双等位基因变异导致一种新的常染色体隐性神经发育障碍
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1038/s41436-021-01133-w
Daniel L Polla #, Mohammad Ali Farazi Fard #, Zahra Tabatabaei, Parham Habibzadeh, Olga A Levchenko, Pooneh Nikuei, Periklis Makrythanasis, Mureed Hussain, Sandra von Hardenberg, Sirous Zeinali, Mohammad-Sadegh Fallah, Janneke H M Schuurs-Hoeijmakers, Mohsin Shahzad, Fareeha Fatima, Neelam Fatima, L