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

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

Author information

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.
PMID:
25823418
DOI:
10.1111/cge.12581
[Indexed for MEDLINE]

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