Associated Papers
A novel SOX2 frameshift pathogenic variant located in the transactivation domain in a male infant with hypogonadotropic hypogonadism.
Kimura-Yoshida A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.
Slavotinek A
Human Genetics, 2019
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.
Errichiello E et al.
European Journal of Medical Genetics, 2018
SOX2 anophthalmia syndrome and dental anomalies.
Chacon-Camacho OF et al.
American Journal of Medical Genetics. Part A, 2015
Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
Jimenez NL et al.
Bmc Medical Genetics, 2011
Select a paper to view details