Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

Expanding genotype–phenotype correlations in FOXG1 syndrome: results from a patient registry

Abstract Background We refine the clinical spectrum of FOXG1 syndrome and expand genotype–phenotype correlations through evaluation of 122 individuals enrolled in an international patient registry. Methods The FOXG1 syndrome online patient registry allows for remote collection of caregiver-reported...

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Bibliographic Details
Main Authors: Elise Brimble, Kathryn G. Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R. Z. Ruzhnikov, Xilma R. Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, the FOXG1 Research Foundation
Format: Article
Language:English
Published: BMC 2023-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Patient registry
Genotype–phenotype association
Rare neurological diseases
Movement Disorder
Epilepsy
Online Access:https://doi.org/10.1186/s13023-023-02745-y

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