Searching for Potocki-Lupski syndrome Phenotype: A Patient with Language Impairment and no Autism

Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo du...

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Autori principali: Ercan-Sencicek, A. Gulhan, Wright, Nicole R. Davis, Frost, Stephen J., Fulbright, Robert K., Felsenfeld, Susan, Hart, Lesley, Landi, Nicole, Mencl, W. Einar, Sanders, Stephan J., Pugh, Kenneth R., State, Matthew W., Grigorenko, Elena L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3343226/
https://ncbi.nlm.nih.gov/pubmed/22178197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.braindev.2011.11.003
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