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pro vyhledávání: '"Aggeliki Malamidou"'
Autor:
Kosmas Sarafidis, Nikolaos Peroulis, Antonios Psarakis, Thomas Kataras, Eleni Tsoulou-Panidou, Anastasios Xefteris, Georgios Daskalakis, Eleni Sekerli, Aggeliki Malamidou, Eirini Oikonomidou, Eleni Agakidou, Sofia Charisiou, Georgios Efstathiou, Antonia Arampatzi
Publikováno v:
Cytogenetic and Genome Research. 159:109-118
In the present study, we report a case of a female infant with a de novo unbalanced t(14;15) translocation resulting in a 14-Mb deletion of the 15q11.1q14 region. The deletion includes the 15q11.2q13 Prader-Willi syndrome (PWS) critical region, while