Novel mutations in patients with X-linked Alport syndrome: Two case reports

RATIONALE: A genotype-phenotype correlation is known to be associated with Alport syndrome (AS). Identifying novel mutations can expand the knowledge about the natural course of AS. PATIENT CONCERNS: The first patient was a-15-year-old boy detected with proteinuria during the school health check-up....

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Detalles Bibliográficos
Autores principales: Oh, Songhee, Kim, Jieun, Kim, Hyoungnae, Jeon, Jin Seok, Noh, Hyunjin, Han, Dong Cheol, Jin, So-Young, Kwon, Soon Hyo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531161/
https://www.ncbi.nlm.nih.gov/pubmed/31096494
http://dx.doi.org/10.1097/MD.0000000000015660

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531161/
https://www.ncbi.nlm.nih.gov/pubmed/31096494
http://dx.doi.org/10.1097/MD.0000000000015660

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