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Deletion of REXO1L1 locus in a patient with malabsorption syndrome, growth retardation, and dysmorphic features: a novel recognizable microdeletion syndrome?

BACKGROUND: Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution giving rise to gene duplicates or losses. “Unsuccessful” duplicates that remain...

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Detalles Bibliográficos
Autores principales:	D’Apice, Maria Rosaria, Novelli, Antonio, di Masi, Alessandra, Biancolella, Michela, Antoccia, Antonio, Gullotta, Francesca, Licata, Norma, Minella, Daniela, Testa, Barbara, Nardone, Anna Maria, Palmieri, Giampiero, Calabrese, Emma, Biancone, Livia, Tanzarella, Caterina, Frontali, Marina, Sangiuolo, Federica, Novelli, Giuseppe, Pallone, Francesco
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422118/ https://www.ncbi.nlm.nih.gov/pubmed/25927938 http://dx.doi.org/10.1186/s12881-015-0164-3

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