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Uncommon Presentation of Coffin-Siris Syndrome with Epilepsy Carrying SMARCC2 Nonsense Mutation
Sep 23, 2024
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by
coffinsirisdev
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Pigmentation abnormalities in Coffin-Siris Syndrome
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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
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