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The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes
Mar 2, 2025
—
by
coffinsiris-foundation
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Clinical features of SMARCA2 duplication overlap with Coffin–Siris syndrome
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Interstitial 6q25 microdeletion syndrome: ARID1B is the key gene
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