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NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders
Congenital diarrheal disorders (CDDs) are early-onset enteropathies generally inherited as autosomal recessive traits. Most patients with CDDs require rapid diagnosis as they need immediate and specific therapy to avoid a poor prognosis, but their clinical picture is often overlapping with a myriad...
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| Veröffentlicht in: | Diagnostics (Basel) |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
MDPI
2021
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7915612/ https://ncbi.nlm.nih.gov/pubmed/33567694 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/diagnostics11020262 |
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