Scientific Article 🇬🇧 Directly KS related

International clinical evidence-based guideline for Kleefstra syndrome

person Arianne Bouman, Charlotte M.W. Gaasterland, Carla Sloof-Enthoven, Tanja Zdolsek Draksler, Dmitrijs Rots, Karlijn Vermeulen-Kalk, Joyce M. Geelen, Lottie D. Morison, Angela T. Morgan, Dorota Wicher, Tjitske Kleefstra

calendar_today May 31, 2026

An international KLEFS1 consortium of 43 experts and patient representatives from 15 countries developed an evidence-based clinical guideline for Kleefstra syndrome. It includes 66 tailored recommendations to reduce care disparities, improve outcomes, standardize international care, and guide rare disorder guideline development.