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Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss. Mol Cytogenet 2015;8:18..
Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?. Eur J Med Genet 2018;61(10):581-584..