Article
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Orphanet journal of rare diseases - 25 Aug 2015
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
Abstract excerpt
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-diagnosed and clinically homogeneous cohort of 35 ROHHAD patients. METHODS: We sequenced the exomes of seven ROHHAD trios,...
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