Article
Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted.
Human molecular genetics - 1 May 1993
Weksberg R, Teshima I, Williams B R, Greenberg C R, Pueschel S M, Chernos J E, Fowlow S B, Hoyme E, Anderson I J, Whiteman D A
Abstract excerpt
To define the region of 11p15 involved in Beckwith-Wiedemann syndrome (BWS), we have carried out a molecular genetic analysis of six patients with features of BWS and constitutional cytogenetic abnormalities involving chromosome band 11p15. Molecular analysis confirmed the 11p origin of the duplicated material and defined the smallest region of overlap for such duplications, within which a gene involved in BWS...
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