title: Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
authors.affiliation: Duke School of Medicine, Duke University, Durham, NC, USA.
authors.forename: C
authors.initials: C
authors.lastname: Williams
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University, Durham, NC, USA.|Department of Neurobiology, Duke University, Durham, NC, USA.
authors.forename: Y-H
authors.initials: YH
authors.lastname: Jiang
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University, Durham, NC, USA.
authors.forename: V
authors.initials: V
authors.lastname: Shashi
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University, Durham, NC, USA.
authors.forename: R
authors.initials: R
authors.lastname: Crimian
authors.affiliation: Department of Pediatrics, Division of Genetics, Duke University, Durham, NC, USA.
authors.forename: K
authors.initials: K
authors.lastname: Schoch
authors.affiliation: Department of Neurology, Wake Forest University North Carolina Baptist Hospital, Durham, NC, USA.
authors.forename: A
authors.initials: A
authors.lastname: Harper
authors.affiliation: NewMedicines, UCB, Slough, UK.
authors.forename: D
authors.initials: D
authors.lastname: McHale
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, NY, USA.
authors.forename: D
authors.initials: D
authors.lastname: Goldstein
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, NY, USA.|Department of Medicine, University of Melbourne, Melbourne Victoria, Australia.
authors.forename: S
authors.initials: S
authors.lastname: Petrovski
mesh_terms: D001927:Brain Diseases / Q000235:genetics*; D002675:Child, Preschool; D018389:Codon, Nonsense; D002658:Developmental Disabilities / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005808:Genes, Recessive; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007805:Language Development Disorders / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018389:Codon, Nonsense; D008565:Membrane Proteins; C484857:PGAP1 protein, human; D010744:Phosphoric Monoester Hydrolases