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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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Detalles Bibliográficos
Autores principales:	Sugimoto, Keisuke, Miyazawa, Tomoki, Nishi, Hitomi, Miyazaki, Kohei, Enya, Takuji, Okada, Mitsuru, Takemura, Tsukasa
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2016
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5055680/ https://www.ncbi.nlm.nih.gov/pubmed/27717313 http://dx.doi.org/10.1186/s12882-016-0354-z

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