- •The expressivity of SOX2-related disorders is more variable than previously thought.
- •Eye malformations are common but not obligatory features of SOX2-related disorders.
- •SOX2 mutation carriers may present with ataxia and complex movement disorders.
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- Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma.Am. J. Med. Genet. A. 2018; 176: 2710-2719
- SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.Eur J Med Genet. 2018; 61: 335-340
- Anophthalmia-esophageal atresia syndrome caused by an SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.Am. J. Med. Genet. A. 2006; 140: 1899-1903
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- Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.Mol. Vis. 2008; 14: 583-592
- Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.Am. J. Med. Genet. A. 2010; 152A: 2355-2359
- Whole-genome copy number variation analysis in anophthalmia and microphthalmia.Clin. Genet. 2013; 84: 473-481
- Sox2 conditional mutation in mouse causes ataxic symptoms, cerebellar vermis hypoplasia, and postnatal defects of Bergmann glia.Glia. 2018; 66: 1929-1946
- Sox2 Is Essential for Oligodendroglial Proliferation and Differentiation during Postnatal Brain Myelination and CNS Remyelination.J. Neurosci. 2018; 38: 1802-1820