A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report
Abstract GM3 synthase deficiency is associated with salt and pepper developmental regression syndrome (SPDRS), a rare genetic disorder. Herein, we report the first Iranian patient with SPDRS. We detected a novel pathogenic variant of ST3GAL5 (NM_003896.4: c.1030_1031del, p.Ile344Cysfs*11). The proba...
Main Authors: | , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-08-01
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Series: | Human Genome Variation |
Online Access: | https://doi.org/10.1038/s41439-021-00164-8 |