Contribution of families using the GenIDA database to the description of MED13L syndrome and literature review

Abstract The GenIDA project aims to improve the understanding and management of rare genetic forms of intellectual disability by fostering collaboration among patients, caregivers, healthcare professionals, and research professionals. Clinical data is provided by patients’ families via a structured...

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Bibliographic Details
Main Authors: Roseline Caumes, Pauline Burger, Jean-Louis Mandel, Hélène Béhal, Jamal Ghoumid, Thomas Smol
Format: Article
Language:English
Published: BMC 2025-05-01
Series:Journal of Neurodevelopmental Disorders
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Online Access:https://doi.org/10.1186/s11689-025-09618-4
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