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Article

Isolated choanal and gut atresias: pathogenetic role of serine protease inhibitor type 2 (SPINT2) gene mutations unlikely.

European journal of medical research - 2 Mar 2018

Niederwanger Christian, Lechner Silvia, König Lisa, Janecke Andreas R, Pototschnig Claus, Häussler Beatrice, Scholl-Bürgi Sabine, Müller Thomas, Heinz-Erian Peter

Abstract excerpt

BACKGROUND: Choanal (CA) and gastrointestinal atresias (GA) are an important feature of syndromic congenital sodium diarrhea (sCSD), a disorder recently associated with mutations in the gene for serine protease inhibitor type 2 (SPINT2). It is, however, not known whether isolated non-syndromic CA and GA themselves might result from SPINT2 mutations. METHODS: We performed a prospective cohort study to investigate...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29499739
DOI: 10.1186/s40001-018-0312-2
PMCID: PMC5834866

Genes

SPINT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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