Associated Papers
SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.
Okoye O et al.
American Journal of Medical Genetics. Part A, 2023
Prenatal diagnosis of Sex determining region Y -box transcription factor 2 anophthalmia syndrome caused by germline mosaicism using next-generation sequencing: A case report.
Nikuei P et al.
International Journal of Reproductive Biomedicine, 2023
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf L et al.
American Journal of Medical Genetics. Part A, 2022
Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
Yadava SM et al.
Journal of Genetic Counseling, 2019
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
Chassaing N et al.
Clinical Genetics, 2014
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities.
Suzuki J et al.
Journal of Human Genetics, 2014
Parent-of-origin effects in SOX2 anophthalmia syndrome.
Osborne RJ et al.
Molecular Vision, 2011
Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.
Schneider A et al.
American Journal of Medical Genetics. Part A, 2008
Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.
Chassaing N et al.
American Journal of Medical Genetics. Part A, 2007
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