Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

BACKGROUND: Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD) is thought to be a genetic disease caused by de novo mutations, though causative mutations have yet to be identified. We searched for de novo coding mutations among a carefully-diagno...

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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: Barclay, Sarah F., Rand, Casey M., Borch, Lauren A., Nguyen, Lisa, Gray, Paul A., Gibson, William T., Wilson, Richard J. A., Gordon, Paul M. K., Aung, Zaw, Berry-Kravis, Elizabeth M., Ize-Ludlow, Diego, Weese-Mayer, Debra E., Bech-Hansen, N. Torben
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4548308/
https://ncbi.nlm.nih.gov/pubmed/26302956
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-015-0314-x
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