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Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant
Patient: Female, 19-year-old Final Diagnosis: Nephronophthisis Symptoms: Fatigue • poor appetite Clinical Procedure: — Specialty: Genetics • Nephrology OBJECTIVE: Rare disease BACKGROUND: Nephronophthisis, an autosomal recessive ciliopathy involving mutations in primary cilium genes, is characterize...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
International Scientific Literature, Inc.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681955/ https://www.ncbi.nlm.nih.gov/pubmed/37992003 http://dx.doi.org/10.12659/AJCR.941413 |