Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report

BACKGROUND: Several shared common gene networks participate in development of interstinal ganglia and also nephron formation; the glial cell line-derived neurotrophic factor/Ret/glial cell line-derived neurotrophic factor receptor gene network is particularly important. CASE PRESENTATION: We encount...

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Bibliografische gegevens
Gepubliceerd in:BMC Nephrol
Hoofdauteurs: Sugimoto, Keisuke, Miyazawa, Tomoki, Nishi, Hitomi, Miyazaki, Kohei, Enya, Takuji, Okada, Mitsuru, Takemura, Tsukasa
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2016
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5055680/
https://ncbi.nlm.nih.gov/pubmed/27717313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-016-0354-z
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