Article
Cognitive-motor profile, clinical characteristics and diagnosis of CHARGE syndrome: an Italian experience.
American journal of medical genetics. Part A - 1 Dec 2014
Santoro Lucia, Ficcadenti Anna, Zallocco Federica, Del Baldo Giada, Piraccini Francesca, Gesuita Rosaria, Ceccarani Patrizia, Gabrielli Orazio
Abstract excerpt
Since 2005, the Pediatric Clinic of Maternal-Infantile Sciences Institute in Ancona, in collaboration with the Lega del Filo d'Oro in Osimo, has been taking care of 35 patients with clinical and molecular diagnosis of CHARGE syndrome. Our investigation is the largest Italian cohort study of CHARGE patients. CHARGE syndrome is a multiple malformation syndrome involving ocular coloboma, heart defects, choanal...
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