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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Hlavní autoři:	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
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2023-06-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Patient registry Genotype–phenotype association Rare neurological diseases Movement Disorder Epilepsy
On-line přístup:	https://doi.org/10.1186/s13023-023-02745-y
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