CRTAP-Related Osteogenesis Imperfecta: Clinical Variability and a Potential Founder Variant in CRTAP
We expand the clinical spectrum of patients with <i>CRTAP</i> variants and highlight the clinical variability of this extremely rare type of OI, which may present with either prenatal or postnatal onset. Our findings also underscore the importance of investigating the role of <i>CRTAP</i> in extra-skeletal tissues and assessing potential founder effects in underrepresented populations.
Authors
- Ana Berta Sousa (ORCID: https://orcid.org/0000-0001-5889-2492)
- Karen Elise Heath (ORCID: https://orcid.org/0000-0002-5816-7044)
- André Travessa (ORCID: https://orcid.org/0000-0002-4147-2800)
- Carolina Vaz-de-Macedo (ORCID: https://orcid.org/0000-0001-6734-8878)
- Silvia Modamio‐Høybjør (ORCID: https://orcid.org/0000-0002-2409-4422)
- Margarida Palma (ORCID: https://orcid.org/0000-0002-1151-9014)
- José Carlos Romeu (ORCID: https://orcid.org/0000-0002-9582-2343)
- Céu Barreiros
- Rafael Correia Barão (ORCID: https://orcid.org/0000-0002-3102-1969)
- Teresa Mirco
- Andreia Magalhães (ORCID: https://orcid.org/0000-0002-4638-990X)
Institutions
- University of Lisbon (PT)
- Hospital Universitario La Paz (ES)
- Instituto de Salud Carlos III (ES)
- Hospital Prof. Dr. Fernando Fonseca (PT)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Centro Hospitalar Lisboa Norte (PT)
- Centro de Investigación Biomédica en Red (ES)
- Hospital Garcia de Orta (PT)
- Hospital de Santa Maria (PT)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-08-20
- DOI
- https://doi.org/10.1159/000547923
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00