<scp>SENP7</scp> ‐Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation
of prominent clinical features and molecular findings of SENP7-associated disorder in previous cases and our case.
Authors
- Geeta Kolar (ORCID: https://orcid.org/0000-0003-0662-3615)
- Pinaki Pal (ORCID: https://orcid.org/0000-0003-0088-8022)
- Suseela Vavilala (ORCID: https://orcid.org/0000-0003-4033-8009)
- Gayatri Nerakh
- Karthik Bharadwaj Tallapaka (ORCID: https://orcid.org/0000-0003-0386-2266)
- Aneek Das Bhowmik (ORCID: https://orcid.org/0000-0003-3318-8268)
- Shreya Bhat
- Elizabeth Siby
- Valli Undamatla
Institutions
- Centre for Cellular and Molecular Biology (IN)
- Fernandez Hospital (IN)
- Institute of Bioinformatics and Applied Biotechnology (IN)
- Academy of Scientific and Innovative Research (IN)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-08-16
- DOI
- https://doi.org/10.1111/cge.70047
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00