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A further case of a Prader-Willi syndrome phenotype in a patient with Angelman ...
De Molfetta,Greice Andreotti; Felix,Temis Maria; Riegel,Mariluce; Ferraz,Victor Evangelista de Faria; Pina Neto,João Monteiro deAngelman syndrome (AS) and Prader-Willi syndrome (PWS) are distinct human neurogenetic disorders; however, a clinical overlap between AS and PWS has been identified. We report on a further case of a patient showing the PWS phenotype with the AS molecular defect. Despite the PWS phenotype, the DNA methylation analysis of SNRPN revealed an AS pattern. Cytogenetic and FISH analysis showed normal chromosomes 15 and...
Date: 2002
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Origin: Oasisbr