Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Bengani, H, Handley, M, Alvi, M et al. (31 more authors) (2017) Clinical and molecular consequences of disease-associated de novo mutations in SATB2. Genetics in Medicine, 19 (8). pp. 900-908. ISSN 1098-3600



  • Bengani, H
  • Handley, M ORCID logo
  • Alvi, M
  • Ibitoye, R
  • Lees, M
  • Lynch, SA
  • Lam, W
  • Fannemel, M
  • Nordgren, A
  • Malmgren, H
  • Kvarnung, M
  • Mehta, S
  • McKee, S
  • Whiteford, M
  • Stewart, F
  • Connell, F
  • Clayton-Smith, J
  • Mansour, S
  • Mohammed, S
  • Fryer, A
  • Morton, J
  • UK 10K Consortium
  • Grozeva, D
  • Asam, T
  • Moore, D
  • Sifrim, A
  • McRae, J
  • Hurles, ME
  • Firth, HV
  • Raymond, FL
  • Kini, U
  • Nellåker, C
  • DDD study
  • FitzPatrick, DR
Copyright, Publisher and Additional Information: © The Author(s) (2017). This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit
Keywords: absent speech; CUT domain; de novo mutation; intellectual disability; SATB2
  • Accepted: 1 November 2016
  • Published (online): 2 February 2017
  • Published: August 2017
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)
Depositing User: Symplectic Publications
Date Deposited: 22 Jan 2019 13:09
Last Modified: 22 Jan 2019 13:09
Status: Published
Publisher: Springer Nature
Identification Number:
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