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

Abstract 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-syndrom...

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Detalhes bibliográficos
Main Authors: Christian Niederwanger, Silvia Lechner, Lisa König, Andreas R. Janecke, Claus Pototschnig, Beatrice Häussler, Sabine Scholl-Bürgi, Thomas Müller, Peter Heinz-Erian
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-03-01
Colecção:European Journal of Medical Research
Assuntos:
Isolated atresia
Gut
Choanae
Serine protease inhibitor type 2
SPINT2 splice mutation
Acesso em linha:http://link.springer.com/article/10.1186/s40001-018-0312-2
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