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Monozygotic twins discordant for ROHHAD phenotype.
Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE. Patwari PP, et al. Among authors: ize ludlow d. Pediatrics. 2011 Sep;128(3):e711-5. doi: 10.1542/peds.2011-0155. Epub 2011 Aug 1. Pediatrics. 2011. PMID: 21807698
Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT. Barclay SF, et al. Among authors: ize ludlow d. Orphanet J Rare Dis. 2015 Aug 25;10:103. doi: 10.1186/s13023-015-0314-x. Orphanet J Rare Dis. 2015. PMID: 26302956 Free PMC article.
Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD.
Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE. Barclay SF, et al. Among authors: ize ludlow d. Respir Physiol Neurobiol. 2016 Jan 15;221:59-63. doi: 10.1016/j.resp.2015.11.002. Epub 2015 Nov 10. Respir Physiol Neurobiol. 2016. PMID: 26555080
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