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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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| Publié dans: | Front Genet |
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| Auteurs principaux: | , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Frontiers Media S.A.
2020
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| Sujets: | |
| Accès en ligne: | 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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