Article info
Genotype-phenotype correlations
Short report
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
- Correspondence to Dr Maria J Nabais Sá, Department of Human Genetics (route 836), Radboud University Medical Center, P.O. box 9101, 6500 HB, Nijmegen, The Netherlands; maria.nabaissa{at}gmail.com
Citation
Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis
Publication history
- Received November 5, 2020
- Accepted July 14, 2021
- First published August 5, 2021.
Online issue publication
July 21, 2022
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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.