Hypomorphic SI genetic variants are associated with childhood chronic loose stools.

Bruno Pedro ChumpitaziJeffery LewisDerick CooperMauro D'AmatoJoel LimSandeep GuptaAdrian MirandaNatalie TerryDevendra MehtaAnn ScheimannMolly O'GormanNeelesh TipnisYinka DaviesJoel FriedlanderHeather SmithJaya PunatiJulie KhlevnerMala SettyCarlo Di Lorenzo

Published in: PloS one (2020)

Non-Hispanic white children with chronic idiopathic loose stools have a higher prevalence of CSID-associated hypomorphic SI variants than the general population. The GI symptom burden was greater among the study subjects with a hypomorphic SI variant than those without hypomorphic SI variants.

Keyphrases

room temperature
copy number
risk factors
drug induced
genome wide
early life
childhood cancer