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In Memory
OP23.09: Prenatal diagnosis of Coffin Siris syndrome
Mar 2, 2025
—
by
coffinsiris-foundation
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Identification of a de novo splicing variant in the Coffin–Siris gene, SMARCE1, in a patient with Angelman-like syndrome
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First data from a parent-reported registry of 81 individuals with Coffin–Siris syndrome: Natural history and management recommendations
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