Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

BACKGROUND: Since the introduction of the array-CGH technique in the diagnostic workup of mental retardation, new recurrent copy number variations and novel microdeletion/microduplication syndromes were identified. These findings suggest that some genomic disorders have high penetrance but a wide ra...

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Библиографические подробности
Опубликовано в: :Mol Cytogenet
Главные авторы: Gimelli, Stefania, Capra, Valeria, Di Rocco, Maja, Leoni, Massimiliano, Mirabelli-Badenier, Marisol, Schiaffino, Maria Cristina, Fiorio, Patrizia, Cuoco, Cristina, Gimelli, Giorgio, Tassano, Elisa
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2014
Предметы:
Research
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4255718/
https://ncbi.nlm.nih.gov/pubmed/25478008
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-014-0054-y
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