Case report reveals novel missense variation in SENP7 linked to arthrogryposis multiplex congenita, highlighting its role in immunodeficiency.
Summary of prominent clinical features and molecular findings of SENP7-associated disorder in previous cases and our case. The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/cge.70047. The data that support the findings of this study are openly available in ClinVar at https://www.ncbi.nlm.nih.gov/clinvar/variation/3340479/, reference number Accession: VCV003340479.2.
No takes yet. Share an insight, caveat, or question.
Pal et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: