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Novel ARID1B variant inherited from somatogonadal mosaic mother in siblings with Coffin‑Siris syndrome 1
Sep 25, 2024
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by
coffinsirisdev
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A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria
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A rare Coffin-Siris syndrome induced by SOX11: a de novo nonsense variant of short stature
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