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

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 an...

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Detalles Bibliográficos
Autores principales: Niederwanger, Christian, Lechner, Silvia, König, Lisa, Janecke, Andreas R., Pototschnig, Claus, Häussler, Beatrice, Scholl-Bürgi, Sabine, Müller, Thomas, Heinz-Erian, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5834866/
https://www.ncbi.nlm.nih.gov/pubmed/29499739
http://dx.doi.org/10.1186/s40001-018-0312-2

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