Identification and Functional Verification of Variants Associated With Clubfoot and Arthrogrypotic Hand Deformation in a Multigeneration Polish Family
Our findings reveal TMEM256 as a potential novel candidate gene for clubfoot and highlight the contribution of MYH3 variants to the broader clinical spectrum observed. These findings contribute to understanding the genetic complexity underlying clubfoot, providing unique insights into potential novel candidate gene and pathways involved in this condition.
Authors
- Akshaya Ramanujam
- Adrian Odrzywolski
- Joyce B. J. van Meurs (ORCID: https://orcid.org/0000-0001-6245-2123)
- Annemieke J.M.H. Verkerk (ORCID: https://orcid.org/0000-0002-7523-3656)
- Przemko Tylżanowski (ORCID: https://orcid.org/0000-0003-0769-559X)
- Ewa Hordyjewska‐Kowalczyk (ORCID: https://orcid.org/0000-0003-4544-1240)
- Grzegorz Kandzierski (ORCID: https://orcid.org/0000-0003-1928-8764)
Institutions
- Medical University of Lublin (PL)
- Erasmus MC (NL)
- Erasmus University Rotterdam (NL)
- KU Leuven (BE)
Publication Details
- Journal
- Annals of Human Genetics
- Published
- 2025-09-29
- DOI
- https://doi.org/10.1111/ahg.70024
- Primary Topic
- Congenital limb and hand anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00