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Coffin-Siris and Nicolaides-Baraitser syndromes are a common well recognizable cause of intellectual disability
Mar 2, 2025
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by
coffinsiris-foundation
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Report of a patient with a constitutional missense mutation in SMARCB1, Coffin–Siris phenotype, and schwannomatosis
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Disruption of the ARID1B and ADAMTS6 loci due to a t(5;6)(q12.3;q25.3) in a patient with developmental delay
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