Lanean...

Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother

The pericentromeric region of chromosome 16p is rich in segmental duplications that predispose to rearrangements through non-allelic homologous recombination. Several recurrent copy number variations have been described recently in chromosome 16p. 16p11.2 rearrangements (29.5–30.1 Mb) are associated...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Tabet, Anne-Claude, Pilorge, Marion, Delorme, Richard, Amsellem, Frédérique, Pinard, Jean-Marc, Leboyer, Marion, Verloes, Alain, Benzacken, Brigitte, Betancur, Catalina
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2012
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3330222/
https://ncbi.nlm.nih.gov/pubmed/22234155
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.244
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!