Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype‐phenotype correlations

BACKGROUND: Angelman syndrome (AS) is a neurodevelopmental disorder characterised by severe mental retardation, dysmorphic features, ataxia, seizures, and typical behavioural characteristics, including a happy sociable disposition. AS is caused by maternal deficiency of UBE3A (E6 associated protein...

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Autori principali: Sahoo, T, Peters, S U, Madduri, N S, Glaze, D G, German, J R, Bird, L M, Barbieri‐Welge, R, Bichell, T J, Beaudet, A L, Bacino, C A
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2006
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564536/
https://ncbi.nlm.nih.gov/pubmed/16183798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.036913
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