Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Makrythanasis, P, Kato, M, Zaki, MS et al. (18 more authors) (2016) Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. American Journal of Human Genetics, 98 (4). pp. 615-626. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • Makrythanasis, P
  • Kato, M
  • Zaki, MS
  • Saitsu, H
  • Nakamura, K
  • Santoni, FA
  • Miyatake, S
  • Nakashima, M
  • Issa, MY
  • Guipponi, M
  • Letourneau, A
  • Logan, CV
  • Roberts, N
  • Parry, DA
  • Johnson, CA
  • Matsumoto, N
  • Hamamy, H
  • Sheridan, E
  • Kinoshita, T
  • Antonarakis, SE
  • Murakami, Y
Dates:
  • Published: 7 April 2016
  • Accepted: 9 February 2016
  • Published (online): 17 March 2016
Institution: The University of Leeds
Academic Units: The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds)
The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds)
Funding Information:
FunderGrant number
Jules Thorn Charitable TrustNOT GIVEN
Great Ormond St. Hosp. Childrens CharityV1217
Depositing User: Symplectic Publications
Date Deposited: 03 Oct 2016 15:35
Last Modified: 03 Nov 2016 01:02
Published Version: http://dx.doi.org/10.1016/j.ajhg.2016.02.007
Status: Published
Publisher: Elsevier
Identification Number: https://doi.org/10.1016/j.ajhg.2016.02.007
Related URLs:

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