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...

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Detalles Bibliográficos
Autores principales: Halgren, Christina, Bache, Iben, Bak, Mads, Myatt, Mikkel Wanting, Anderson, Claire Marie, Brøndum-Nielsen, Karen, Tommerup, Niels
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2012
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499750/
https://www.ncbi.nlm.nih.gov/pubmed/22617346
http://dx.doi.org/10.1038/ejhg.2012.92

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3499750/
https://www.ncbi.nlm.nih.gov/pubmed/22617346
http://dx.doi.org/10.1038/ejhg.2012.92

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