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1q21.1 Microduplication expression in adults

PURPOSE: Rare, recurrent chromosome 1q21.1 duplications have been associated with developmental delay, congenital anomalies, and macrocephaly in children. Data on adult clinical expression would help to inform genetic counseling. METHODS: A systematic review of 22 studies reporting 107 individuals (...

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Bibliografische gegevens
Hoofdauteurs: Dolcetti, Alessia, Silversides, Candice K., Marshall, Christian R., Lionel, Anath C., Stavropoulos, Dimitri J., Scherer, Stephen W., Bassett, Anne S.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2012
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3817079/
https://ncbi.nlm.nih.gov/pubmed/23018752
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/gim.2012.129
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