Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy

Clin Genet. 2015 Dec;88(6):597-9. doi: 10.1111/cge.12581. Epub 2015 Mar 30.

C Williams¹, Y-H Jiang^{2

3}, V Shashi², R Crimian², K Schoch², A Harper⁴, D McHale⁵, D Goldstein⁶, S Petrovski^{6

7}

¹ Duke School of Medicine, Duke University, Durham, NC, USA.
² Department of Pediatrics, Division of Genetics, Duke University, Durham, NC, USA.
³ Department of Neurobiology, Duke University, Durham, NC, USA.
⁴ Department of Neurology, Wake Forest University North Carolina Baptist Hospital, Durham, NC, USA.
⁵ NewMedicines, UCB, Slough, UK.
⁶ Institute for Genomic Medicine, Columbia University, New York, NY, USA.
⁷ Department of Medicine, University of Melbourne, Melbourne Victoria, Australia.

No abstract available

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