PGAP1

Publications

Kettwig M et al. Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review. BMC Neurol. 2016;16:74.  PMID: 27206732.

Granzow M et al. Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline. Mol Cell Probes. 2015;29(5):323-9.  PMID: 26050939.

Bosch DG et al. Cerebral visual impairment and intellectual disability caused by PGAP1 variants. Eur J Hum Genet. 2015;23(12):1689-93.  PMID: 25804403.

Murakami Y et al. Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy. PLoS Genet. 2014;10(5):e1004320.  PMID: 24784135.