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Article

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.

European journal of medical genetics - 1 Jun 2018

Errichiello Edoardo, Gorgone Cristina, Giuliano Loretta, Iadarola Barbara, Cosentino Emanuela, Rossato Marzia, Kurtas Nehir Edibe, Delledonne Massimo, Mattina Teresa, Zuffardi Orsetta

Abstract excerpt

SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29371155
DOI: 10.1016/j.ejmg.2018.01.011

Genes

SOX2
SOX3
SOX9

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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