Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis
ContributorsMarconi, Caroline Baya Catherine ; Lemmens, Laure; Masclaux, Frédéric; Mattioli, Francesca; Fluss, Joel Victor; Extermann, Philippe; Mendez, Purificacion; Ha Vinh Leuchter, Elisa Russia Tuyet Mai; Stathaki, Elissavet; Laurent, Sacha; Hammar Bouveret, Eva; Vannier, Anne; Varvagiannis, Konstantinos; Guipponi, Michel; Sloan Bena, Frédérique; Blouin, Jean-Louis; Abramowicz, Marc ; Fokstuen, Siv
Published inClinical genetics, vol. 100, no. 3, p. 329-333
Publication date2021-09
First online date2021-06-14
Abstract
Keywords
- ERGIC1
- Arthrogryposis
- Loss of function mutation
- Whole genome sequencing
Affiliation
Research group
Funding
- Fondation Privée des HUG - [QS05-28]
Citation (ISO format)
MARCONI, Caroline Baya Catherine et al. Bi-allelic loss of <i>ERGIC1</i> causes relatively mild arthrogryposis. In: Clinical genetics, 2021, vol. 100, n° 3, p. 329–333. doi: 10.1111/cge.14004
Main files (1)
Article (Published version)
Secondary files (1)
Identifiers
- PID : unige:159455
- DOI : 10.1111/cge.14004
- PMID : 34037256
- PMCID : PMC8453841
Commercial URLhttps://onlinelibrary.wiley.com/doi/10.1111/cge.14004
ISSN of the journal0009-9163