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Report of a patient and further clinical and molecular characterization of interstitial 4p16.3 microduplication

BACKGROUND: Pure interstitial duplications of chromosome band 4p16.3 represent an infrequent chromosomal finding with, to the best of our knowledge, only two patients to date reported. CASE PRESENTATION: We report on a 13-year-old boy showing a set of dysmorphic facial features, attention deficit hy...

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Podrobná bibliografie
Vydáno v:Mol Cytogenet
Hlavní autoři: Palumbo, Orazio, Palumbo, Pietro, Ferri, Emanuela, Riviello, Francesco Nicola, Cloroformio, Lea, Carella, Massimo, Di Giacomo, Marilena Carmela
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4359789/
https://ncbi.nlm.nih.gov/pubmed/25774220
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-015-0119-6
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