Article
Clinical and molecular characterization of Italian patients affected by Cohen syndrome.
Journal of human genetics - 1 Jan 2007
Katzaki Eleni, Pescucci Chiara, Uliana Vera, Papa Filomena Tiziana, Ariani Francesca, Meloni Ilaria, Priolo Manuela, Selicorni Angelo, Milani Donatella, Fischetto Rita, Celle Maria Elena, Grasso Rita, Dallapiccola Bruno, Brancati Francesco, Bordignon Marta, Tenconi Romano, Federico Antonio, Mari Francesca, Renieri Alessandra, Longo Ilaria
Abstract excerpt
Cohen syndrome is an autosomal recessive disorder with variability in the clinical manifestations, characterized by developmental delay, visual disability, facial dysmorphisms and intermittent neutropenia. We described a cohort of 10 patients affected by Cohen syndrome from nine Italian families ranging from 5 to 52 years at assessment. Characteristic age related facial changes were well documented. Visual...
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