Complete phenotyping of the pathogenic genotype of the <i>NTRK1</i> gene in early childhood
This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.
Authors
- Gustavo Fabregat (ORCID: https://orcid.org/0000-0002-1658-1466)
- Antonio Sierra‐Rivera (ORCID: https://orcid.org/0000-0001-7824-7239)
- Elena Montesinos-Sanchís
- Raquel Rodríguez‐López (ORCID: https://orcid.org/0000-0001-5865-5382)
- Carmen Llena (ORCID: https://orcid.org/0000-0002-3942-2820)
- Altea Esteve-Martínez
- Virginia Ballesteros-Cogollos
- Xavi Aparisi-Domingo
Institutions
- Universitat de València (ES)
- Hospital General Universitario de Ciudad Real (ES)
- Hospital General Universitario De Valencia (ES)
Publication Details
- Journal
- Laboratory Medicine
- Published
- 2025-11-12
- DOI
- https://doi.org/10.1093/labmed/lmaf085
- Primary Topic
- Pain Management and Opioid Use
- Type
- article
- Field-Weighted Citation Impact
- 0.00