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...

ver descrição completa

Detalhes bibliográficos

Principais autores:	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
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMC 2023-06-01
coleção:	Orphanet Journal of Rare Diseases
Assuntos:	Patient registry Genotype–phenotype association Rare neurological diseases Movement Disorder Epilepsy
Acesso em linha:	https://doi.org/10.1186/s13023-023-02745-y
Tags:	Adicionar Tag Sem tags, seja o primeiro a adicionar uma tag!