Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology

In a screen of patients by fluorescence in-situ hybridization and array comparative genomic hybridization in the past two years (July 2007--July 2009), we identified two patients with duplications in the 22q11.22-23, occurring outside the common DiGeorge syndrome/valocardiofacial syndrome region. Fl...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:J Pediatr Genet
Egile Nagusiak: Hantash, Feras M., Wang, Boris T., Owen, Renius, Ross, Leslie P., Mahon, Loretta W., Boyar, Fatih Z., Anguiano, Arturo, Strom, Charles M.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Georg Thieme Verlag KG 2012
Gaiak:
Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5020930/
https://ncbi.nlm.nih.gov/pubmed/27625811
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-2012-019
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak