The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

Six submicroscopic deletions comprising chromosome band 2q23.1 in patients with severe mental retardation (MR), short stature, microcephaly and epilepsy have been reported, suggesting that haploinsufficiency of one or more genes in the 2q23.1 region might be responsible for the common phenotypic fea...

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Detalhes bibliográficos
Main Authors: van Bon, Bregje WM, Koolen, David A, Brueton, Louise, McMullan, Dominic, Lichtenbelt, Klaske D, Adès, Lesley C, Peters, Gregory, Gibson, Kate, Novara, Francesca, Pramparo, Tiziano, Bernardina, Bernardo Dalla, Zoccante, Leonardo, Balottin, Umberto, Piazza, Fausta, Pecile, Vanna, Gasparini, Paolo, Guerci, Veronica, Kets, Marleen, Pfundt, Rolph, de Brouwer, Arjan P, Veltman, Joris A, de Leeuw, Nicole, Wilson, Meredith, Antony, Jayne, Reitano, Santina, Luciano, Daniela, Fichera, Marco, Romano, Corrado, Brunner, Han G, Zuffardi, Orsetta, de Vries, Bert BA
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2987180/
https://ncbi.nlm.nih.gov/pubmed/19809484
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.152
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