Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and Microcephaly
METTL5 的双等位基因变异导致常染色体隐性智力障碍和小头畸形
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.09.007
Elodie M Richard, Daniel L Polla, Muhammad Zaman Assir, Minerva Contreras, Mohsin Shahzad, Asma A Khan, Attia Razzaq, Javed Akram, Moazzam N Tarar, Thomas A Blanpied, Zubair M Ahmed, Rami Abou Jamra, Dagmar Wieczorek, Hans van Bokhoven, Sheikh Riazuddin, Saima Riazuddin
