Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-appearing 17-year-old boy with marfanoid habi...

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Dades bibliogràfiques
Autors principals: Roberts, Jennifer L., Gandomi, Stephanie K., Parra, Melissa, Lu, Ira, Gau, Chia-Ling, Dasouki, Majed, Butler, Merlin G.
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2014
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4060289/
https://ncbi.nlm.nih.gov/pubmed/24991439
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/264947
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