MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Naiki, Misako, et al. “MBTPS2 Mutation Causes BRESEK BRESHECK Syndrome”. American Journal of Medical Genetics Part A, vol. 158A, no. 1, Oct. 2011, pp. 97–102, https://doi.org/10.1002/ajmg.a.34373.