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Article

[FOXG1, a new gene responsible for the congenital form of Rett syndrome].

Revista de neurologia - 16 May 2011

Roche-Martinez A, Gerotina E, Armstrong-Moron J, Sans-Capdevila O, Pineda M

Abstract excerpt

INTRODUCTION: Rett syndrome (RS) is a neurodevelopmental disorder that affects girls almost exclusively. The identification of mutations in the MECP2 and CDKL5 genes offers genetic confirmation of the clinical diagnosis. The FOXG1 gene appears to be a novel cause of the congenital variant of RS. CASE REPORT: We describe the first Spanish patient with the atypical (congenital) variant of RS with mutation of the...

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Source

Identifiers

PMID: 21488007

Genes

FOXG1
CDKL5
MECP2

Variants

Provenance

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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