Expanding the clinical spectrum of the 16p11.2 chromosomal rearrangements: three patients with syringomyelia

16p11.2 rearrangements are associated with developmental delay, cognitive impairment, autism spectrum disorder, behavioral problems (especially attention-deficit hyperactivity disorder), seizures, obesity, dysmorphic features, and abnormal head size. In addition, congenital anomalies and abnormal br...

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Main Authors: Schaaf, Christian P, Goin-Kochel, Robin P, Nowell, Kerri P, Hunter, Jill V, Aleck, Kirk A, Cox, Sarah, Patel, Ankita, Bacino, Carlos A, Shinawi, Marwan
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2011
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3025795/
https://ncbi.nlm.nih.gov/pubmed/20959866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2010.168
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