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Nature Genetics 5, 11–16 (1 September 1993) | doi:10.1038/ng0993-11

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome

Amanda K. Ewart , Colleen A. Morris , Donald Atkinson , Weishan Jin , Keith Sternes , Patricia Spallone , A. Dean Stock , Mark Leppert & Mark T. Keating