A 1.3-Mb 7q11.23 Atypical Deletion Identified in a Cohort of Patients with Williams-Beuren Syndrome

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Karger

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A duplicated gene in the breakpoint regions of the 7q11.23 Williams–Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK

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Williams–Beuren syndrome: a challenge for genotype–phenotype correlations

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Identification of familial and de novo microduplications of 22q11.21q11.23 distal to the 22q11.21 microdeletion syndrome region

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