Short stature, brachydactyly and joint contractures associated with novel <i>FBN2</i> variants in two families
Our findings suggest that short stature and mild skeletal dysplasia might be part of the spectrum of <i>FBN2-</i>related phenotypes. The study supports the role of <i>FBN2</i> variants in growth failure and expands the molecular spectrum of <i>FBN2</i> variants.
Authors
- Sakshi Vats (ORCID: https://orcid.org/0000-0003-3711-4426)
- Otto Lennartsson
- Maria Lodefalk (ORCID: https://orcid.org/0000-0002-5292-4913)
- Mari Muurinen (ORCID: https://orcid.org/0009-0008-5595-4334)
- Ola Nilsson (ORCID: https://orcid.org/0000-0002-9986-8138)
- Outi Mäkitie (ORCID: https://orcid.org/0000-0002-4547-001X)
- Petra Loid (ORCID: https://orcid.org/0000-0002-2708-0878)
- Fan Wang (ORCID: https://orcid.org/0000-0002-9869-9504)
- Alice Costantini (ORCID: https://orcid.org/0000-0003-1408-9272)
Institutions
- Karolinska University Hospital (SE)
- University of Helsinki (FI)
- Örebro University (SE)
- Helsinki University Hospital (FI)
- Karolinska Institutet (SE)
- Folkhälsans Forskningscentrum (FI)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-04-08
- DOI
- https://doi.org/10.1136/jmg-2024-110533
- Citations
- 1
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Stiftelsen Promobilia
- Stiftelsen Dorothea Olivia, Karl Walter och Jarl Walter Perkléns Minne
- Finska Läkaresällskapet
- Folkhälsanin Tutkimussäätiö
- Svenska Forskningsrådet Formas
- Academy of Finland
- Örebro Universitet
- Karolinska Institutet
- Päivikki ja Sakari Sohlbergin Säätiö
- Konung Gustaf V:s och Drottning Victorias Frimurarestiftelse
- Sigrid Juséliuksen Säätiö
- Stiftelsen Frimurare Barnhuset i Stockholm
- Novo Nordisk Fonden
- Erik och Edith Fernströms Stiftelse för Medicinsk Forskning
- Sällskapet Barnavård