F. Sempere, Mari Luz Moreno Sancho, E. Drehmer, Bárbara Gómez, Sandra Carrera Juliá, Marí Ángeles Navarro, M. J. Vega
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引用次数: 0
Abstract
Graphical Abstract Abstract. Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The most characteristic clinical symptom is global developmental delay, absent or severely delayed speech, hypotonia and autism spectrum disorder. The syndrome is underdiagnosed and its real incidence remains unknown, but more than 2,000 cases have been reported worldwide. In the present investigation patients diagnosed with PMS for twelve years were recruited
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