Analysis of retrospective natural history data collected from patients with SYNGAP1-related disorders: a preliminary examination of the Citizen database

Abstract Background SYNGAP1-related disorder (SRD) is a rare neurodevelopmental disorder caused by genetic variants. A major challenge is the characterization of SRD, which requires assessment of several outcomes. We considered natural history data from the Citizen database on 65 patients with SRD i...

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Bibliographic Details
Main Authors: Matthew R. Scott, Albert Misko, Yang Liu, Oleksandr Sverdlov
Format: Article
Language:English
Published: BMC 2025-07-01
Series:Orphanet Journal of Rare Diseases
Online Access:https://doi.org/10.1186/s13023-025-03918-7
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