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Article

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

Orphanet journal of rare diseases - 12 Jun 2023

Brimble Elise, Reyes Kathryn G, Kuhathaas Kopika, Devinsky Orrin, Ruzhnikov Maura R Z, Ortiz-Gonzalez Xilma R, Scheffer Ingrid, Bahi-Buisson Nadia, Olson Heather

Abstract excerpt

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 outcomes. Inclusion required documentation of a (likely) pathogenic variant in FOXG1. Caregivers were administered a...

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Identifiers

PMID: 37308910
DOI: 10.1186/s13023-023-02745-y
PMCID: PMC10262363

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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