Frequency of 22q11.2 microdeletion in children with congenital heart defects in western poland

BACKGROUND: The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecul...

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Detalles Bibliográficos
Autores principales: Wozniak, Anna, Wolnik-Brzozowska, Danuta, Wisniewska, Marzena, Glazar, Renata, Materna-Kiryluk, Anna, Moszura, Tomasz, Badura-Stronka, Magdalena, Skolozdrzy, Joanna, Krawczynski, Maciej R, Zeyland, Joanna, Bobkowski, Waldemar, Slomski, Ryszard, Latos-Bielenska, Anna, Siwinska, Aldona
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3016365/
https://www.ncbi.nlm.nih.gov/pubmed/21134246
http://dx.doi.org/10.1186/1471-2431-10-88

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