ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.

Sarah F BarclayCasey M RandLisa NguyenRichard J A WilsonRachel WevrickWilliam T GibsonN Torben Bech-HansenDebra E Weese-Mayer

Published in: Orphanet journal of rare diseases (2018)

ROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS.

Keyphrases

end stage renal disease
genome wide
chronic kidney disease
primary care
newly diagnosed
ejection fraction
copy number
type diabetes
adipose tissue
metabolic syndrome
peritoneal dialysis
prognostic factors
dna methylation
gene expression
weight loss