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Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation
Mar 2, 2025
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by
coffinsiris-foundation
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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
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SMARCE1, a rare cause of Coffin–Siris Syndrome: Clinical description of three additional cases
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