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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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Shranjeno v:
Bibliografske podrobnosti
izdano v:Mol Cytogenet
Main Authors: Palumbo, Orazio, Palumbo, Pietro, Ferri, Emanuela, Riviello, Francesco Nicola, Cloroformio, Lea, Carella, Massimo, Di Giacomo, Marilena Carmela
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2015
Teme:
Online dostop: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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