De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Green, C., Willoughby, J., Study, D.D.D. et al. (1 more author) (2017) De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus. American Journal of Medical Genetics Part A, 173 (2). pp. 3165-3171. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
Copyright, Publisher and Additional Information: © 2017 Wiley Periodicals, Inc. This is an author produced version of a paper subsequently published in American Journal of Medical Genetics Part A. Uploaded in accordance with the publisher's self-archiving policy.
Keywords: 3p microdeletion; 3p25, SETD5; aberrant blind ending bronchus; intellectual disability; loss of function
Dates:
  • Published: December 2017
  • Published (online): 14 September 2017
  • Accepted: 4 August 2017
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > School of Medicine (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 16 Nov 2017 12:40
Last Modified: 14 Sep 2018 00:39
Published Version: https://doi.org/10.1002/ajmg.a.38461
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.38461
Related URLs:

Share / Export

Statistics