Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants

Lam, Z., Albaba, S., Study, D.D.D. et al. (1 more author) (2019) Atypical, milder presentation in a child with CC2D2A and KIDINS220 variants. Clinical Dysmorphology. ISSN 0962-8827

Abstract

Metadata

Authors/Creators:
Copyright, Publisher and Additional Information: © 2019 Wolters Kluwer Health. This is an Open Access accepted manuscript distributed under the terms of the Creative Commons Attribution-NonCommercial Licence (http://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. You may not use the material for commercial purposes.
Keywords: Joubert syndrome; reverse phenotyping; whole-exome sequencing
Dates:
  • Accepted: 19 August 2019
  • Published (online): 1 October 2019
Institution: The University of Sheffield
Academic Units: The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Human Metabolism (Sheffield)
The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Oncology (Sheffield)
Depositing User: Symplectic Sheffield
Date Deposited: 16 Oct 2019 10:48
Last Modified: 01 Oct 2020 00:38
Status: Published online
Publisher: Wolters Kluwer Health
Refereed: Yes
Identification Number: https://doi.org/10.1097/mcd.0000000000000298
Related URLs:

Share / Export

Statistics