A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics

BACKGROUND: Proximal deletions in the 13q12.11 region are very rare. Much larger deletions including this region have been described and are associated with complex phenotypes of mental retardation, developmental delay and various others anomalies. RESULTS: We report on a 3-year-old girl with a rare...

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Detalles Bibliográficos
Autores principales: Lagou, Magdalini, Papoulidis, Ioannis, Orru, Sandro, Papadopoulos, Vasileios, Daskalakis, George, Kontodiou, Maria, Anastasakis, Eleftherios, Petersen, Michael B, Kitsos, George, Thomaidis, Loretta, Manolakos, Emmanouil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4265435/
https://www.ncbi.nlm.nih.gov/pubmed/25506395
http://dx.doi.org/10.1186/s13039-014-0092-5

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