Genotype–phenotype relationship in three cases with overlapping 19p13.12 microdeletions

We describe the detailed clinical and molecular characterization of three patients (aged 7, 8(4/12) and 31 years) with overlapping microdeletions in 19p13.12, extending to 19p13.13 in two cases. The patients share the following clinical features with a recently reported 10-year-old girl with a 19p13...

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Autors principals: Bonaglia, Maria C, Marelli, Susan, Novara, Francesca, Commodaro, Simona, Borgatti, Renato, Minardo, Grazia, Memo, Luigi, Mangold, Elisabeth, Beri, Silvana, Zucca, Claudio, Brambilla, Daniele, Molteni, Massimo, Giorda, Roberto, Weber, Ruthild G, Zuffardi, Orsetta
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2010
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3002847/
https://ncbi.nlm.nih.gov/pubmed/20648052
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.115
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