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

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 outcome...

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Detalles Bibliográficos
Autores principales: Brimble, Elise, Reyes, Kathryn G., Kuhathaas, Kopika, Devinsky, Orrin, Ruzhnikov, Maura R. Z., Ortiz-Gonzalez, Xilma R., Scheffer, Ingrid, Bahi-Buisson, Nadia, Olson, Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10262363/
https://www.ncbi.nlm.nih.gov/pubmed/37308910
http://dx.doi.org/10.1186/s13023-023-02745-y

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