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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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Detalles Bibliográficos
Autores principales: Palumbo, Orazio, Palumbo, Pietro, Ferri, Emanuela, Riviello, Francesco Nicola, Cloroformio, Lea, Carella, Massimo, Di Giacomo, Marilena Carmela
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359789/
https://www.ncbi.nlm.nih.gov/pubmed/25774220
http://dx.doi.org/10.1186/s13039-015-0119-6