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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Nat Rev Dis Primers
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2015
Gaiak:
Article
Sarrera elektronikoa: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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