A de novo balanced translocation t(7;12)(p21.2;p12.3) in a patient with Saethre–Chotzen-like phenotype downregulates TWIST and an osteoclastic protein-tyrosine phosphatase, PTP-oc

European Journal of Medical Genetics - Tập 54 - Trang e478-e483 - 2011
Patrizia De Marco1, Alessandro Raso1, Silvana Beri2, Stefania Gimelli3, Elisa Merello1, Samantha Mascelli1, Maurizia Baldi4, Ave Maria Baffico4, Marco Pavanello1, Armando Cama1, Valeria Capra1, Roberto Giorda2, Giorgio Gimelli5
1U.O. Neurochirurgia, Istituto G. Gaslini, Genova, Italy
2IRCCS E. Medea, Lecco, Italy
3Department of Genetic and Laboratory Medicine, Geneva University Hospital, Geneva, Switzerland
4Laboratorio di Genetica Umana, Ospedali Galliera, Genova, Italy
5Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, Italy

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