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ARID2, a rare cause of Coffin-Siris syndrome: A novel microdeletion at 12q12q13.11 causing severe short stature and literature review
Sep 23, 2024
—
by
coffinsirisdev
A novel microdeletion at 12q12q13.11 causing severe short stature and literature review.
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Uncommon Presentation of Coffin-Siris Syndrome with Epilepsy Carrying SMARCC2 Nonsense Mutation
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Epilepsy in Coffin–Siris syndrome: A report from the international CSS registry and review of the literature
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