Journal article
Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
C Williams, Y-H Jiang, V Shashi, R Crimian, K Schoch, A Harper, D McHale, D Goldstein, S Petrovski
Clinical Genetics | WILEY-BLACKWELL | Published : 2015
DOI: 10.1111/cge.12581
