Associated Papers
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
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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