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Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency
BACKGROUND: Enterokinase deficiency (EKD) is a rare autosomal recessively inherited disorder mainly characterized by diarrhea, hypoproteinemia and failure to thrive in infancy. Loss-of-function variants in the TMPRSS15 gene cause EKD. METHODS: We report the clinical manifestations and molecular basi...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7517701/ https://ncbi.nlm.nih.gov/pubmed/33061943 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.538778 |
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