Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosu...

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Detalles Bibliográficos
Autores principales: Novara, Francesca, Rinaldi, Berardo, Sisodiya, Sanjay M, Coppola, Antonietta, Giglio, Sabrina, Stanzial, Franco, Benedicenti, Francesco, Donaldson, Alan, Andrieux, Joris, Stapleton, Rachel, Weber, Astrid, Reho, Paolo, van Ravenswaaij-Arts, Conny, Kerstjens-Frederikse, Wilhelmina S, Vermeesch, Joris Robert, Devriendt, Koenraad, Bacino, Carlos A, Delahaye, Andrée, Maas, S M, Iolascon, Achille, Zuffardi, Orsetta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533198/
https://www.ncbi.nlm.nih.gov/pubmed/28422132
http://dx.doi.org/10.1038/ejhg.2017.49

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5533198/
https://www.ncbi.nlm.nih.gov/pubmed/28422132
http://dx.doi.org/10.1038/ejhg.2017.49

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