Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management

BACKGROUND: This study aimed to use whole-exome sequencing (WES) to diagnose ultra-rare renal diseases and the clinical impact of such an approach on patient care. METHODS: Clinical, radiological, pathological, and genetic findings were reviewed in the patients and their family members. RESULTS: Nin...

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Vydáno v:BMC Med Genomics
Hlavní autoři: Jung, Jiwon, Lee, Joo Hoon, Park, Young Seo, Seo, Go Hun, Keum, Changwon, Kang, Hee Gyung, Lee, Hajeong, Lee, Sang Koo, Lee, Sang Taek, Cho, Heeyeon, Lee, Beom Hee
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2021
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8254264/
https://ncbi.nlm.nih.gov/pubmed/34217267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01026-6
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