Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Only 20 patients with deletions of 18q12.2 have been reported in the literature and the associated phenotype includes borderline intellectual disability, behavioral problems, seizures, obesity, and eye manifestations. Here, we report a male patient with a de novo translocation involving chromosomes...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Halgren, Christina, Bache, Iben, Bak, Mads, Myatt, Mikkel Wanting, Anderson, Claire Marie, Brøndum-Nielsen, Karen, Tommerup, Niels
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2012
Aiheet:
Short Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3499750/
https://ncbi.nlm.nih.gov/pubmed/22617346
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.92
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