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...

詳細記述

保存先:
書誌詳細
出版年:J Clin Endocrinol Metab
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Endocrine Society 2015
主題:
Special Features
オンライン･アクセス: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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