Combined microdeletions and CHD7 mutation causing severe CHARGE/DiGeorge syndrome: clinical presentation and molecular investigation by array-CGH
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M. Tzetis | E. Kanavakis | P. Makrythanasis | K. Giannikou | M. Kanariou | H. Fryssira | M. Kaliakatsos | T. Siahanidou | A. Giannakopoulos | A. Skiathitou