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Paper Details

Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism.
Ophthalmic Genet
1
2021
Asn24Argfs, NM_003106, NP_, SOX2, SOX2 gene, developmental delay, dysmorphic features, hearing loss, heritable ophthalmic disorders, iris transillumination abnormalities, microphthalmia, peripheral leukocyte, peripheral leukocyte DNA
Author NameAffiliation
Julie C SappNational Human Genome Research Institute
Jennifer J JohnstonNational Human Genome Research Institute
Jennifer J JohnstonNational Human Genome Research Institute
Leslie G BieseckerNational Human Genome Research Institute
Leslie G BieseckerNational Human Genome Research Institute
Brian P BrooksNational Eye Institute, National Institutes of Health (NIH)
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