Publications

Benítez EO et al. A novel GMPPA Mutation in two adult sisters with achalasia, alacrima, short stature, dysmorphism, and intellectual disability. Mol Syndromol. 2018;9(2):110-114. PMID: 29593478.

Gold WA et al. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Am J Med Genet A. 2017;173(8):2246-2250. PMID: 28574218.

Koehler K et al. Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. Am J Hum Genet. 2013;93(4):727-34. PMID: 24035193