Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43–q44

Submicroscopic deletions involving chromosome 1q43–q44 result in cognitive impairment, microcephaly, growth restriction, dysmorphic features, and variable involvement of other organ systems. A consistently observed feature in patients with this deletion are the corpus callosal abnormalities (CCAs),...

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Autors principals: Nagamani, Sandesh C Sreenath, Erez, Ayelet, Bay, Carolyn, Pettigrew, Anjana, Lalani, Seema R, Herman, Kristin, Graham, Brett H, Nowaczyk, Malgorzata JM, Proud, Monica, Craigen, William J, Hopkins, Bobbi, Kozel, Beth, Plunkett, Katie, Hixson, Patricia, Stankiewicz, Pawel, Patel, Ankita, Cheung, Sau Wai
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260920/
https://ncbi.nlm.nih.gov/pubmed/21934713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.171
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