22q11.2 deletion syndrome

22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in the English language of the constellation of...

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Detalles Bibliográficos
Publicado en:Nat Rev Dis Primers
Autores principales: McDonald-McGinn, Donna M., Sullivan, Kathleen E., Marino, Bruno, Philip, Nicole, Swillen, Ann, Vorstman, Jacob A. S., Zackai, Elaine H., Emanuel, Beverly S., Vermeesch, Joris R., Morrow, Bernice E., Scambler, Peter J., Bassett, Anne S.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4900471/
https://ncbi.nlm.nih.gov/pubmed/27189754
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/nrdp.2015.71
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