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Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

The 16p11.2 microdeletion syndrome is characterized by a wide range of phenotypic expressions and is frequently associated with developmental delay, symptoms from the autism spectrum, epilepsy, congenital anomalies, and obesity. These phenotypes are often related to a proximal 16p11.2 deletion of ap...

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Sonraí Bibleagrafaíochta
Main Authors: Egger, Jos I M, Verhoeven, Willem M A, Verbeeck, Wim, de Leeuw, Nicole
Formáid: Artigo
Teanga:Inglês
Foilsithe: Dove Medical Press 2014
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3971941/
https://ncbi.nlm.nih.gov/pubmed/24707176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/NDT.S58684
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