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Prenatal identification of partial 3q duplication syndrome

BACKGROUND: The 3q duplication syndrome is a result of duplication of a large fragment of the long arm of chromosome 3, mainly 3q21-qter, and in most cases it is diagnosed only after birth. The phenotypic consequences resulting from genetic imbalance are an important source of information for geneti...

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Detalles Bibliográficos
Autores principales: Pasińska, Magdalena, Adamczak, Rafał, Repczyńska, Anna, Łazarczyk, Ewelina, Iskra, Barbara, Runge, Agata Klaudia, Haus, Olga
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6567560/
https://www.ncbi.nlm.nih.gov/pubmed/31196198
http://dx.doi.org/10.1186/s12920-019-0547-y