Peer-reviewedLicence not statedJournal of medical genetics
Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study
6 affiliations
- 1Department of Neurology, Saint Louis University, School of Medicine, Monteleone Hall, 1438 S. Grand Blvd., St. Louis, MO, USA 63104
- 2Greenwood Genetic Center, 14 Edgewood Dr., Greenville, SC, USA, 29605
- 3Oschner Health System, New Orleans, LA, USA, 70121
- 4UC Davis MIND Institute, 2825 50 St., Sacramento, CA, USA, 95817
- 5Department of Pediatrics UC DAVIS, Sacramento, Ca
- 6Department of Biochemistry and Molecular Medicine, University of California, Davis, School of Medicine, 4455 Tupper Hall, Davis, CA, USA, 95616
Related
- Case Report: Spontaneous colonic rupture in a 12-year-old competitive swimmer with vascular Ehlers–Danlos syndrome
- KLK15 alters connective tissues in hypermobile Ehlers-Danlos syndrome
- Sex-associated territory-specific vascular phenotypes in genetically confirmed vascular Ehlers-Danlos syndrome
- Splicing Alterations Associated with Multiple Homozygous TNXB Variants in a Patient with Suspected Classical-Like Ehlers–Danlos Syndrome
- Cortisol homeostasis and glucocorticoid signaling are altered in FMR1 full mutation and premutation carriers.
BibTeX
@article{casanova2026enrichment,
title = {{Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study}},
author = {Emily L. Casanova and Carrie Buchanan and Caleb Hinzman and Layla Johnson and Tofarati Okenimkpe and Alaina Kellum and Tiffany Sheedy and Louise Gane and Elisabeth Makhoul and Randi J. Hagerman and Paul J. Hagerman},
journal = {Journal of medical genetics},
year = {2026},
month = oct,
doi = {10.1136/jmg-2025-111346},
url = {https://doi.org/10.1136/jmg-2025-111346},
}
RIS
TY - JOUR
TI - Enrichment of an Ehlers-Danlos-like Phenotype in Women with the FMR1 Premutation: A Pilot Study
AU - Emily L. Casanova
AU - Carrie Buchanan
AU - Caleb Hinzman
AU - Layla Johnson
AU - Tofarati Okenimkpe
AU - Alaina Kellum
AU - Tiffany Sheedy
AU - Louise Gane
AU - Elisabeth Makhoul
AU - Randi J. Hagerman
AU - Paul J. Hagerman
PY - 2026
DA - 2026/10/22
JO - Journal of medical genetics
DO - 10.1136/jmg-2025-111346
UR - https://doi.org/10.1136/jmg-2025-111346
SN - 0022-2593
SN - 1468-6244
ER -