Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR.
Heinz-Erian P, et al. Among authors: booth iw.
Am J Hum Genet. 2009 Feb;84(2):188-96. doi: 10.1016/j.ajhg.2009.01.004. Epub 2009 Jan 29.
Am J Hum Genet. 2009.
PMID: 19185281
Free PMC article.
Patients from both groups have a high risk of mortality due to immediate electrolyte imbalances and complications from long-term parenteral nutrition in the first years of life, but survivors can eventually adapt to partial or complete enteral nutrition. ...
Patients from both groups have a high risk of mortality due to immediate electrolyte imbalances and complications from long-term pare …