Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome

Ashraf, T., Vaina, C., Giri, D. et al. (7 more authors) (2020) Expanding the phenotypic spectrum of IFT81 : associated ciliopathy syndrome. American Journal of Medical Genetics Part A, 182 (10). pp. 2403-2408. ISSN 1552-4825

Abstract

Metadata

Authors/Creators:
Copyright, Publisher and Additional Information: © 2020 Wiley Periodicals LLC.
Keywords: ciliopathy; Dolichocephaly; IFT81; skeletal dysplasia; whole exome sequencing
Dates:
  • Accepted: 23 June 2020
  • Published (online): 11 August 2020
  • Published: 15 September 2020
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 19 Aug 2020 10:24
Last Modified: 25 Jan 2022 09:23
Status: Published
Publisher: Wiley
Refereed: Yes
Identification Number: https://doi.org/10.1002/ajmg.a.61781
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