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SMARCA4 inactivating mutations cause concomitant Coffin–Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type
Mar 2, 2025
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coffinsiris-foundation
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Successful difficult airway management of a child with Coffin-siris syndrome
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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features
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