Associated Papers
SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation.
Huang N et al.
Human Molecular Genetics, 2024
A novel SPINT2 missense mutation causes syndromic congenital sodium diarrhea.
Zhang XX et al.
World Journal of Pediatrics : Wjp, 2022
Tufting Enteropathy: A Review of Clinical and Histological Presentation, Etiology, Management, and Outcome.
Cai C et al.
Gastroenterology Research and Practice, 2020
Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys).
Hirabayashi KE et al.
American Journal of Medical Genetics. Part A, 2018
Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.
Niederwanger C et al.
European Journal of Medical Research, 2018
Syndromic congenital diarrhoea: new SPINT2 mutation identified in the UAE.
Bou Chaaya S et al.
Bmj Case Reports, 2017
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Salomon J et al.
Human Genetics, 2014
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea.
Heinz-Erian P et al.
American Journal of Human Genetics, 2009
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