Diagnosis complexity of dentinogenesis imperfecta involving <i>DSPP</i> genetic variants
This study demonstrates the value of long-read sequencing to resolve complex <i>DSPP</i> regions and expands the variant spectrum. The variability in clinical presentation suggests the influence of modifier factors, warranting further genotype-phenotype studies.
Authors
- Aurélie Gouronc (ORCID: https://orcid.org/0000-0003-0758-8882)
- Alexandra Jimenez-Armijo (ORCID: https://orcid.org/0000-0002-3967-3996)
- Marzena Kawczynski
- Manuela Antin
- Jean-Baptiste Lamouche
- Tristan Rey
- Gaétan Caravello
- Caroline Schluth-Bolard
- Alison Roth
- Abdelmalek Alioua
- Agnès Bloch-Zupan
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Institut de génétique et de biologie moléculaire et cellulaire (FR)
- Institut de Biologie Moléculaire des Plantes (FR)
- Institut de Recherche Mathématique Avancée (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Hôpital Civil, Strasbourg (FR)
- Université de Strasbourg (FR)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2026-03-12
- DOI
- https://doi.org/10.1136/jmg-2025-111345
- Primary Topic
- Bone and Dental Protein Studies
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Interreg