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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Autors principals: Halgren, Christina, Bache, Iben, Bak, Mads, Myatt, Mikkel Wanting, Anderson, Claire Marie, Brøndum-Nielsen, Karen, Tommerup, Niels
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group 2012
Matèries:
Short Report
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars