Whole Exome Sequencing Identifies RAI1 Mutation in a Morbidly Obese Child Diagnosed With ROHHAD Syndrome

CONTEXT: The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventi...

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Detalhes bibliográficos
Publicado no:J Clin Endocrinol Metab
Main Authors: Thaker, Vidhu V., Esteves, Kristyn M., Towne, Meghan C., Brownstein, Catherine A., James, Philip M., Crowley, Laura, Hirschhorn, Joel N., Elsea, Sarah H., Beggs, Alan H., Picker, Jonathan, Agrawal, Pankaj B.
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2015
Assuntos:
Special Features
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4422892/
https://ncbi.nlm.nih.gov/pubmed/25781356
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-4215
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